ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828053053
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288467
ClinVar RCV Id:
RCV000340091
RCV000395773
RCV001270619
RCV002411167
RCV003897633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Ala641Thr
CA1637726
NM_001357321.2:c.1921G>A