Canonical Allele Identifier: PA2580129943
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435604
ClinVar RCV Id: RCV003130467
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4753Val
CA061016
NM_000540.3:c.14258C>T