Canonical Allele Identifier: PA915962599
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133202
ClinVar RCV Id: RCV000119709 RCV000655594 RCV000601471 RCV001788016 RCV001788018 RCV001788014 RCV001257496 RCV001788015 RCV001788017 RCV001788019 RCV001788020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2454Cys
CA024778
NM_001042723.2:c.7360C>T