Canonical Allele Identifier: PA2741816949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689900
ClinVar RCV Id: RCV003491425

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4693Leu
CA405682418
NM_000540.3:c.14078C>T