Canonical Allele Identifier: PA645456335
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_000531.2:p.Val3050Ile
CA073259
NM_000540.3:c.9148G>A