Canonical Allele Identifier: PA645456265
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374164
ClinVar RCV Id: RCV000414976 RCV001198534 RCV001233334 RCV003133254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2371Lys
CA16043555
NM_000540.3:c.7111G>A