ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828052722
Gene: ABCG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196061
ClinVar RCV:
RCV000180362
RCV000764411
RCV001137117
RCV002345627
RCV003937636
ClinVar Variation:
198901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Thr400Ser
CA247798
NM_001357321.2:c.1198A>T