Canonical Allele Identifier: PA232053
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133173
ClinVar RCV Id: RCV000119672 RCV000148810 RCV000264566 RCV000270704 RCV000329021 RCV000454582 RCV000542059 RCV002498552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile2321Val
CA024659
NM_000540.3:c.6961A>G