Canonical Allele Identifier: PA2825201022
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2889039
ClinVar RCV Id: RCV003756666

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2578Leu
CA082569
NM_000540.3:c.7732A>C
CA405671836
NM_000540.3:c.7732A>T