Canonical Allele Identifier: PA2828448870
Gene: BTD HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Gly184Arg
CA351606608
NM_001370752.1:c.550G>A
CA351606610
NM_001370752.1:c.550G>C