Allele Registry

Canonical Allele Identifier: PA231816

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000013851

RCV000119463

ClinVar Variation:

12981

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4214_Phe4216del	CA023997 NM_000540.3:c.12640_12648del