ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809118
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501367
ClinVar RCV Id:
RCV000593013
RCV003139898
RCV003323628
RCV004024818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Ala550Thr
CA1637577
NM_022437.3:c.1648G>A