Canonical Allele Identifier: PA915961434
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12988
ClinVar RCV Id: RCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003996093 RCV003447473
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg109Trp
CA024392
NM_001042723.2:c.325C>T