Canonical Allele Identifier: PA2827195701
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 289700
ClinVar RCV Id: RCV000392405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.His127Arg
CA10606520
NM_001323582.1:c.380A>G