Canonical Allele Identifier: PA2827195992
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 458806
ClinVar RCV Id: RCV000524591 RCV001578266 RCV002282207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Tyr434Cys
CA2277463
NM_001323582.1:c.1301A>G