ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221879
Gene: DBT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079935
RCV000280987
RCV003935037
ClinVar Variation:
93993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.3:p.Asn473Ser
CA221878
NM_001918.4:c.1418A>G