Canonical Allele Identifier: PA2741816853
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2885574
ClinVar RCV Id: RCV003758044

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4261Asp
CA405671145
NM_000540.3:c.12783G>C
CA405671146
NM_000540.3:c.12783G>T