Canonical Allele Identifier: PA2825198295
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898653
ClinVar RCV Id: RCV003756845

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1707Cys
CA16622096
NM_000540.3:c.5119C>T