ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453780
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2050126
ClinVar RCV Id:
RCV002937459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Pro502Leu
CA1637531
NM_022437.3:c.1505C>T