ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453836
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2078838
ClinVar RCV Id:
RCV002995036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Tyr638His
CA346671242
NM_022437.3:c.1912T>C