Allele Registry

Canonical Allele Identifier: PA645456415

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001057328

RCV002051703

RCV003221969

ClinVar Variation:

374083

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly4178Ser	CA16043557 NM_000540.3:c.12532G>A