Canonical Allele Identifier: PA891865098
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590484
ClinVar RCV Id: RCV004527759

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp544Glu
CA405690143
NM_000540.3:c.1632C>A
CA405690145
NM_000540.3:c.1632C>G