Canonical Allele Identifier: PA2828448772
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 373539
ClinVar RCV Id: RCV000414058 RCV000675064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Arg128Cys
CA2277309
NM_001370752.1:c.382C>T