Canonical Allele Identifier: PA658681078
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478259
ClinVar RCV Id: RCV000558724 RCV002506378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His2204Tyr
CA308104063
NM_000540.3:c.6610C>T