ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111079
Gene: ABCG8
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071882.1:p.Pro231Thr
NM_022437.3:c.691C>A