ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828052565
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4970
ClinVar RCV Id:
RCV000005258
RCV000727975
RCV003407279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Arg263Gln
CA253364
NM_001357321.2:c.788G>A