ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828052853
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
963638
ClinVar RCV Id:
RCV001237690
RCV002393603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Cys504Arg
CA46470811
NM_001357321.2:c.1510T>C