ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826131177
Gene: ATP8B3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425153
ClinVar RCV Id:
RCV000487705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171473.1:p.Arg677Gln
CA9051417
NM_001178002.3:c.2030G>A