Canonical Allele Identifier: PA2825201040
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 643130
ClinVar RCV Id: RCV000796764

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His2584Gln
CA405671930
NM_000540.3:c.7752T>A
CA405671938
NM_000540.3:c.7752T>G