ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826317768
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665805
RCV003907929
RCV003992365
ClinVar Variation:
550914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Arg667Gln
CA501036
NM_001243182.2:c.2000G>A