ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741978394
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2739113
ClinVar RCV Id:
RCV003555391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Ser569Pro
CA1637598
NM_022437.3:c.1705T>C