ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826318180
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000411652
RCV001091637
RCV002323574
ClinVar Variation:
370081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Glu953Ala
CA6988781
NM_001243182.2:c.2858A>C