ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203670
Gene: ABCG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196062
ClinVar RCV:
RCV000180363
RCV000289049
RCV001515080
RCV002345628
ClinVar Variation:
198902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Thr400Lys
CA203669
NM_022437.3:c.1199C>A