ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828509382
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_001361314.1:p.Lys203Glu
CA247228
NM_001374385.1:c.607A>G