Canonical Allele Identifier: PA2827195906
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1481279
ClinVar RCV Id: RCV002000503 RCV004042441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Cys351Arg
CA2277426
NM_001323582.1:c.1051T>C