ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827327090
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004063
RCV000595271
RCV002354147
RCV003904803
ClinVar Variation:
3859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Asn1192Ser
CA252896
NM_001330578.2:c.3575A>G