Allele Registry

Canonical Allele Identifier: PA2499233213

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001363838

RCV002246339

ClinVar Variation:

1055202

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asn4865del	CA2576827526 NM_000540.3:c.14595_14597del