Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826961864

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848495

ClinVar RCV Id: RCV001052264

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304113.1:p.Leu503Val	CA396465386 NM_001317184.2:c.1507C>G