Allele Registry

Canonical Allele Identifier: PA1139672760

Gene: RYR1 HGNC NCBI

ClinVar Allele:

847649

ClinVar RCV:

RCV001037155

ClinVar Variation:

836110

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly3990Ala	CA405662889 NM_000540.3:c.11969G>C