ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828509421
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289557
ClinVar RCV Id:
RCV000263650
RCV000766301
RCV001122637
RCV004549616
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361314.1:p.Phe305Ile
CA8974703
NM_001374385.1:c.913T>A