ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066527039
Gene: ABCG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Leu596Gln
CA346670808
NM_022437.3:c.1787T>A