ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828509499
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361314.1:p.Arg480Trp
CA8974570
NM_001374385.1:c.1438C>T