ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913198249
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Arg1228Cys
CA8973938
NM_005603.6:c.3682C>T