Canonical Allele Identifier: PA2828449319
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1915687
ClinVar RCV Id: RCV002594004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357682.1:p.Ser114Pro
CA2277304
NM_001370753.1:c.340T>C