Canonical Allele Identifier: PA2827195774
Gene: BTD HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Glu198Asp
CA278247
NM_001323582.1:c.594G>C
CA351606765
NM_001323582.1:c.594G>T