Canonical Allele Identifier: PA2826592444
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1905
ClinVar RCV Id: RCV000001982 RCV001815158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268655.2:p.Arg59Cys
CA082670
NM_001281726.2:c.[175C>T;*3079A>C]
CA082734
NM_001281726.2:c.[175C>T;*2188G>A]
CA278016
NM_001281726.2:c.175C>T