ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104094
Gene: ABCB4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_061337.1:p.Ser320Phe
NM_018849.3:c.959C>T