This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000420781.2:p.Leu1250Phe |
CA10594309
ENST00000489037.2:c.3750G>T
CA10594310
ENST00000489037.2:c.3750G>C
|