ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427912
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.1:p.Phe305Ile
CA8974703
NM_005603.4:c.913T>A