Canonical Allele Identifier: PA2825198177
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2751265
ClinVar RCV Id: RCV003591406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val1672Glu
CA405653082
NM_000540.3:c.5015T>A