ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440770
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291264
ClinVar RCV Id:
RCV000262892
RCV000318546
RCV001094726
RCV002494900
RCV002365329
RCV003949962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071882.1:p.Glu238Lys
CA1637156
NM_022437.3:c.712G>A