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: PA2825421518

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886350

ClinVar RCV Id: RCV003758067

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ala3644Pro	CA405649691 NM_001042723.2:c.10930G>C