Allele Registry

Canonical Allele Identifier: PA231811

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119459

RCV001302437

RCV001449991

RCV002483204

ClinVar Variation:

133036

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asn4119Tyr	CA023980 NM_000540.3:c.12355A>T