ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375470
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_620168.1:p.Arg724Gln
CA9051417
NM_138813.4:c.2171G>A