Canonical Allele Identifier: PA2827195982
Gene: BTD HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Gly425Val
CA278330
NM_001323582.1:c.1274G>T
CA3268250467
NM_001323582.1:c.1274_1275delinsTT