Canonical Allele Identifier: PA2827195765
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 458809
ClinVar RCV Id: RCV000537387 RCV001591206 RCV001778993 RCV002527692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg189Cys
CA2277351
NM_001323582.1:c.565C>T