Canonical Allele Identifier: PA2826592196
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1434552
ClinVar RCV Id: RCV001984666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Val429Ala
CA351608593
NM_001281725.2:c.1286T>C