Allele Registry

Canonical Allele Identifier: PA105593

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000013852

RCV000013853

RCV000119533

RCV000534187

RCV000851296

RCV001787782

RCV001787783

RCV001787784

RCV001787785

RCV001787786

RCV001787787

RCV001787788

RCV004017241

ClinVar Variation:

12982

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4861His	CA024187 NM_000540.3:c.14582G>A