ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828053005
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1597858
ClinVar RCV Id:
RCV002120083
RCV003492734
RCV003958719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Arg610del
CA1637675
NM_001357321.2:c.1829_1831del