Allele Registry

Canonical Allele Identifier: PA2825199981

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV003076819

RCV004009341

ClinVar Variation:

2146721

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val2168Leu	CA405664337 NM_000540.3:c.6502G>C CA405664338 NM_000540.3:c.6502G>T