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: PA2825151576

Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 1759521

ClinVar RCV Id: RCV003099679 RCV004056393

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000379.3:p.Ile252Asn	CA354151285 NM_000388.4:c.755T>A