Canonical Allele Identifier: PA645463299
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 289111
ClinVar RCV Id: RCV000293118 RCV001036979
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Val442Ile
CA2277457
NM_000060.4:c.1324G>A