ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828052761
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499929
ClinVar RCV Id:
RCV000596406
RCV001137121
RCV003330815
RCV003952976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Met428Val
CA1637390
NM_001357321.2:c.1282A>G