ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110946
Gene: ABCG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4979
ClinVar RCV Id:
RCV000005267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071881.1:p.Arg419Pro
CA253375
NM_022436.3:c.1256G>C