Canonical Allele Identifier: PA2826590113
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1411643
ClinVar RCV Id: RCV001918868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Val397Glu
CA913203572
NM_001281723.3:c.1190_1191delinsAG