ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440184
Gene: ABCG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289970
ClinVar RCV Id:
RCV000386077
RCV001141657
RCV003897651
RCV002348023
RCV002519332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071881.1:p.Val171Ile
CA1636623
NM_022436.3:c.511G>A