Allele Registry

Canonical Allele Identifier: PA232074

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000119690

RCV001788000

RCV001788001

RCV001788002

RCV001788003

RCV001788004

RCV001788005

RCV001788006

RCV002281945

ClinVar Variation:

133189

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly2375Ala	CA024718 NM_000540.3:c.7124G>C