ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828052290
Gene: ABCG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000315492
RCV000324327
RCV001523715
RCV002401999
ClinVar Variation:
288558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Tyr54Cys
CA1636901
NM_001357321.2:c.161A>G