ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573081254
Gene: DBT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198475
ClinVar RCV Id:
RCV000179840
RCV003635905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001909.4:p.Ser306Cys
CA247142
NM_001918.5:c.917C>G