ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828053051
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3227783
ClinVar RCV Id:
RCV004517532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Ala641Ser
CA346671292
NM_001357321.2:c.1921G>T