ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828052288
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
767793
ClinVar RCV Id:
RCV000946605
RCV001143576
RCV002400098
RCV003489975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Leu52Val
CA1636900
NM_001357321.2:c.154C>G