Canonical Allele Identifier: PA2573063026
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334343
ClinVar RCV Id: RCV001813857 RCV002542454 RCV004009159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4750Val
CA308120110
NM_000540.3:c.14249A>T