ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826317979
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193969
ClinVar RCV Id:
RCV000174213
RCV000587605
RCV001081569
RCV003955024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ile818Val
CA200886
NM_001243182.2:c.2452A>G