Allele Registry

Canonical Allele Identifier: PA306854

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000182727

RCV000778053

RCV003105815

ClinVar Variation:

201250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Val1594Ile	CA009693 NM_001035.3:c.4780G>A