Canonical Allele Identifier: PA2825198679
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174881
ClinVar RCV Id: RCV001529148

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1812Pro
CA405655274
NM_000540.3:c.5435T>C