Canonical Allele Identifier: PA645456048
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224673
ClinVar RCV Id: RCV000231682 RCV000721364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu480Lys
CA10575982
NM_000540.3:c.1438G>A