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: PA2830324340

Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426275

ClinVar RCV Id: RCV000489841

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_775112.1:p.Asn111Ser	CA392002091 NM_173089.2:c.332A>G