ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260133
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35711
ClinVar RCV Id:
RCV000029360
RCV000726685
RCV002433470
RCV003407364
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Cys985Arg
CA260132
NM_000053.4:c.2953T>C