Canonical Allele Identifier: PA2828448818
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38298
ClinVar RCV Id: RCV000031859 RCV000078073 RCV002514126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Ala151Thr
CA082710
NM_001370752.1:c.[451G>A;1015+255G>C]
CA285305
NM_001370752.1:c.451G>A