Canonical Allele Identifier: PA231900
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133079
ClinVar RCV Id: RCV000119531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4860del
CA024177
NM_000540.3:c.14578_14580del