Canonical Allele Identifier: PA2826592248
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25089
ClinVar RCV Id: RCV000022014 RCV000484254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Ala458Pro
CA278340
NM_001281725.2:c.1372G>C