Canonical Allele Identifier: PA915962788
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329086
ClinVar RCV Id: RCV000289050 RCV000346443 RCV000381209 RCV000384648 RCV001660679 RCV000655514 RCV003995872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val3050Ile
CA073259
NM_001042723.2:c.9148G>A