Canonical Allele Identifier: PA2827195768
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25028
ClinVar RCV Id: RCV000021950 RCV000508413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg191Cys
CA278241
NM_001323582.1:c.571C>T