Canonical Allele Identifier: PA645456193
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329038
ClinVar RCV Id: RCV000274259 RCV000318872 RCV000331583 RCV000357306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1842Pro
CA10648634
NM_000540.3:c.5525T>C