ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197607
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
597093
ClinVar RCV Id:
RCV000733112
RCV003892659
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Val632Thr
CA913189456
NM_022437.3:c.1894_1895delinsAC