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: PA2830322234

Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284143

ClinVar RCV Id: RCV000379061

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Tyr412Asn	CA10604702 NM_173087.2:c.1234T>A