Allele Registry

Canonical Allele Identifier: PA2825421841

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136774

ClinVar RCV:

RCV000119446

RCV000210014

RCV000531152

ClinVar Variation:

133026

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Asp3981Glu	CA023951 NM_001042723.2:c.11943C>G CA405662864 NM_001042723.2:c.11943C>A