ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825279533
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979422
ClinVar RCV Id:
RCV002766293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Tyr594Cys
CA250061586
NM_001005918.3:c.1781A>G