Canonical Allele Identifier: PA2825201289
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071628
ClinVar RCV Id: RCV004016122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2629dup
CA2825002790
NM_000540.3:c.7886_7888dup