Allele Registry

Canonical Allele Identifier: PA231791

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136774

ClinVar RCV:

RCV000119446

RCV000210014

RCV000531152

ClinVar Variation:

133026

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp3986Glu	CA023951 NM_000540.3:c.11958C>G CA405662864 NM_000540.3:c.11958C>A