Allele Registry

Canonical Allele Identifier: PA2825423108

Gene: RYR1 HGNC NCBI

ClinVar Allele:

446128

ClinVar RCV:

RCV000721399

RCV000792265

ClinVar Variation:

451311

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe4919dup	CA658658816 NM_001042723.2:c.14755_14757dup