ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259708
Gene: DBT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045029
ClinVar RCV Id:
RCV001349367
RCV002545609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Cys279Phe
CA341337644
NM_001918.5:c.836G>T