Canonical Allele Identifier: PA658668169
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478274
ClinVar RCV Id: RCV000531104

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2554Pro
CA405671527
NM_000540.3:c.7661T>C