ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828053043
Gene: ABCG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000282782
RCV000733035
RCV001515084
RCV002411234
ClinVar Variation:
336092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Val631Ala
CA1637715
NM_001357321.2:c.1892T>C