Allele Registry

Canonical Allele Identifier: PA206752

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000193338

RCV000264202

RCV000319892

RCV000321638

RCV000374580

RCV002517131

ClinVar Variation:

212104

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg207Cys	CA067890 NM_000540.3:c.619C>T