Allele Registry

Canonical Allele Identifier: PA658668664

Gene: RYR1 HGNC NCBI

ClinVar Allele:

446128

ClinVar RCV:

RCV000721399

RCV000792265

ClinVar Variation:

451311

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4924dup	CA658658816 NM_000540.3:c.14770_14772dup