Canonical Allele Identifier: PA212099
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224405
ClinVar RCV Id: RCV000209997 RCV001853352 RCV002500679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4730Val
CA060978
NM_000540.3:c.14189G>T