Allele Registry

Canonical Allele Identifier: PA232089

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056200

RCV000119708

RCV001383435

RCV001588885

ClinVar Variation:

65953

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ile2453Thr	CA024775 NM_000540.3:c.7358T>C