Canonical Allele Identifier: PA916048604
Gene: BTD HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Trp467Arg
CA278344
NM_001370658.1:c.1399T>C
CA351608934
NM_001370658.1:c.1399T>A