ClinGen Allele Registry
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Canonical Allele Identifier:
PA123371
Gene: ABCB4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000434.1:p.Arg590Gln
NM_000443.4:c.1769G>A