ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289189
Gene: ABCG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071881.1:p.Asp450His
CA46461482
NM_022436.3:c.1348G>C