Allele Registry

Canonical Allele Identifier: PA2825422687

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056181

RCV000119486

ClinVar Variation:

65934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Glu4629Lys	CA024076 NM_001042723.2:c.13885G>A