Canonical Allele Identifier: PA2825198657
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450764
ClinVar RCV Id: RCV001992932

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala1806Val
CA067077
NM_000540.3:c.5417C>T