Canonical Allele Identifier: PA2825201140
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330357
ClinVar RCV Id: RCV001803450

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys2606Ser
CA070340
NM_000540.3:c.7816T>A
CA405672961
NM_000540.3:c.7817G>C