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: PA095849

Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17619

ClinVar RCV Id: RCV000019186

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Trp360Cys	CA341475 NM_000070.3:c.1080G>C CA391999018 NM_000070.3:c.1080G>T