ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197517
Gene: ABCG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Ala193Val
CA1637078
NM_022437.3:c.578C>T