Canonical Allele Identifier: PA105768
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133171
ClinVar RCV Id: RCV000119669 RCV001588957
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp227Val
CA024649
NM_000540.3:c.680A>T