Allele Registry

Canonical Allele Identifier: PA645456608

Gene: RYR1 HGNC NCBI

ClinVar Allele:

410601

ClinVar RCV:

RCV000479874

RCV000548242

RCV002289631

RCV002489160

ClinVar Variation:

420588

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4924del	CA16620842 NM_000540.3:c.14770_14772del