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: PA2826964022

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3064696

ClinVar RCV Id: RCV003989181

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304114.1:p.Ile50Arg	CA396465414 NM_001317185.2:c.149T>G