Canonical Allele Identifier: PA2499235712
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171104
ClinVar RCV Id: RCV001524015 RCV003638789 RCV004007248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Thr279Lys
CA345383834
NM_001035.3:c.836C>A