Canonical Allele Identifier: PA2825200529
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 958801
ClinVar RCV Id: RCV001232029

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2344Lys
CA082296
NM_000540.3:c.7030G>A