Canonical Allele Identifier: PA2573170048
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1376950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4971Met
CA061796
NM_000540.3:c.14912C>T