ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827330177
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3859
ClinVar RCV Id:
RCV000004063
RCV000595271
RCV002354147
RCV003904803
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Asn1186Ser
CA252896
NM_001330579.2:c.3557A>G