ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453795
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719594
ClinVar RCV Id:
RCV002303846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Cys542Tyr
CA346670469
NM_022437.3:c.1625G>A