ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329497
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289465
ClinVar RCV Id:
RCV000273499
RCV000665879
RCV001553563
RCV002518085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Thr890Met
CA6988862
NM_001330579.2:c.2669C>T