Canonical Allele Identifier: PA2825198447
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711985
ClinVar RCV Id: RCV002293703 RCV004005597
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His1757Gln
CA066826
NM_000540.3:c.5271C>A
CA405654373
NM_000540.3:c.5271C>G