Allele Registry

Canonical Allele Identifier: PA1139673472

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001220897

ClinVar Variation:

949436

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Tyr4864del	CA1139666435 NM_000540.3:c.14590_14592del