ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111945
Gene: ABCB11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374098
ClinVar RCV Id:
RCV000414921
RCV001090457
RCV003470365
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003733.2:p.Arg1050Cys
CA1951095
NM_003742.4:c.3148C>T