Allele Registry

Canonical Allele Identifier: PA2825423104

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056244

RCV000119558

ClinVar Variation:

65997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Thr4915Asn	CA024246 NM_001042723.2:c.14744C>A