Canonical Allele Identifier: PA2825201161
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2140220

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2610Phe
CA070357
NM_000540.3:c.7828C>T