Allele Registry

Canonical Allele Identifier: PA232131

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000119768

RCV000691233

RCV001788028

RCV001788029

RCV001788030

RCV001788031

RCV001788032

RCV001788033

RCV001788034

RCV002281947

ClinVar Variation:

133240

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu3104Lys	CA024976 NM_000540.3:c.9310G>A