ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825279760
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_001005918.1:p.Cys778Arg
CA260132
NM_001005918.3:c.2332T>C