Canonical Allele Identifier: PA231879
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133068
ClinVar RCV Id: RCV000119515 RCV001449992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile4817Phe
CA024143
NM_000540.3:c.14449A>T