ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573081252
Gene: DBT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99918
ClinVar RCV:
RCV000079959
RCV000179836
ClinVar Variation:
94016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Arg301Cys
CA275397
NM_001918.5:c.901C>T