Canonical Allele Identifier: PA2828448794
Gene: BTD HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Arg137His
CA082708
NM_001370752.1:c.[410G>A;1015+255G>C]
CA220323
NM_001370752.1:c.410G>A