ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139719054
Gene: DBT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Thr395Ile
CA341330369
NM_001918.5:c.1184C>T