Canonical Allele Identifier: PA2827195848
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 439039
ClinVar RCV Id: RCV000508475 RCV000715008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Ala279Pro
CA351607446
NM_001323582.1:c.835G>C