Allele Registry

Canonical Allele Identifier: PA212196

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000210029

RCV000689719

RCV001128009

RCV002500675

ClinVar Variation:

224392

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala2705Thr	CA071491 NM_000540.3:c.8113G>A