Canonical Allele Identifier: PA915962517
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133175
ClinVar RCV Id: RCV000119674 RCV000148811 RCV000325643 RCV000259113 RCV000530570 RCV001249381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn2342Ser
CA024665
NM_001042723.2:c.7025A>G