Canonical Allele Identifier: PA915961514
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_001036188.1:p.Asp227Val
CA024649
NM_001042723.2:c.680A>T