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: PA2826965241

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12246

ClinVar RCV Id: RCV000013033 RCV000120506 RCV000115856 RCV000148456 RCV000587650 RCV001030616 RCV003328157 RCV003952353

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304114.1:p.Val316Met	CA157969 NM_001317185.2:c.946G>A