ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826318045
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44375
ClinVar RCV:
RCV000029360
RCV000726685
RCV002433470
RCV003407364
ClinVar Variation:
35711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Cys874Arg
CA260132
NM_001243182.2:c.2620T>C