ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865555
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198532
ClinVar RCV Id:
RCV000179906
RCV000724145
RCV001123726
RCV002485177
RCV004553016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Lys203Glu
CA247228
NM_005603.6:c.607A>G