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: PA2825198362

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306468

ClinVar RCV Id: RCV001760478

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu1732Asp	CA405654128 NM_000540.3:c.5196A>C CA405654130 NM_000540.3:c.5196A>T