Allele Registry

Canonical Allele Identifier: PA246377

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000179139

RCV000526318

RCV000680153

RCV000765450

RCV001122357

RCV001122358

ClinVar Variation:

197960

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu2835Asp	CA024923 NM_000540.3:c.8505A>T CA405678896 NM_000540.3:c.8505A>C