Allele Registry

Canonical Allele Identifier: PA231989

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056170

RCV000119622

RCV001854159

RCV002477185

RCV003996483

ClinVar Variation:

65923

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala1577Thr	CA024459 NM_000540.3:c.4729G>A