Canonical Allele Identifier: PA915962492
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329054
ClinVar RCV Id: RCV000290212 RCV000345210 RCV000320665 RCV000384512 RCV001295467 RCV002487449 RCV003995868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2244Trp
CA068607
NM_001042723.2:c.6730C>T