Canonical Allele Identifier: PA645456300
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329065
ClinVar RCV Id: RCV000268845 RCV000308872 RCV000365916 RCV000394671 RCV000655511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2547Val
CA069906
NM_000540.3:c.7640C>T