Canonical Allele Identifier: PA2827195932
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 143949
ClinVar RCV Id: RCV000501861 RCV000727665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Phe383Val
CA312373
NM_001323582.1:c.1147T>G