Canonical Allele Identifier: PA2829359866
Gene: DBT HGNC NCBI
ClinVar Allele:
26986
ClinVar RCV:
RCV003581561
ClinVar Variation:
11947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001909.4:p.Lys482_Ter483insLeuArgLeuIleArgHisSer
CA121800
NM_001918.5:c.1448G>T