Allele Registry

Canonical Allele Identifier: PA658680953

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000557129

RCV000996873

RCV002483515

RCV003999500

ClinVar Variation:

478228

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala1370Thr	CA065561 NM_000540.3:c.4108G>A