ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573081250
Gene: DBT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457147
ClinVar RCV Id:
RCV000535685
RCV001844190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Arg291Leu
CA341337383
NM_001918.5:c.872G>T