Canonical Allele Identifier: PA231892
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133076
ClinVar RCV Id: RCV000056059 RCV000119526 RCV000148814 RCV000333715 RCV000294840 RCV000558155 RCV001199052 RCV000276319 RCV002051652 RCV002483206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met485Val
CA024169
NM_000540.3:c.1453A>G