ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829359866
Gene: DBT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11947
ClinVar RCV Id:
RCV003581561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Lys482_Ter483insLeuArgLeuIleArgHisSer
CA121800
NM_001918.5:c.1448G>T