ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825038715
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018093
ClinVar RCV Id:
RCV001317345
RCV001844283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Cys1079Arg
CA388029778
NM_000053.4:c.3235T>C