Canonical Allele Identifier: PA2825201317
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3034823
ClinVar RCV Id: RCV004537012
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2641Phe
CA308113606
NM_000540.3:c.7921C>T