ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028309
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370081
ClinVar RCV Id:
RCV000411652
RCV001091637
RCV002323574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Glu986Ala
CA6988781
NM_001330578.2:c.2957A>C