ClinGen Allele Registry
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Canonical Allele Identifier:
PA247799
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198901
ClinVar RCV Id:
RCV000180362
RCV000764411
RCV001137117
RCV002345627
RCV003937636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Thr401Ser
CA247798
NM_022437.3:c.1201A>T