Allele Registry

Canonical Allele Identifier: PA232102

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000119719

RCV000528193

RCV001588961

RCV001788021

RCV001788022

RCV001788023

RCV001788024

RCV001788025

RCV001788026

RCV001788027

ClinVar Variation:

133207

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2508His	CA024821 NM_000540.3:c.7523G>A