ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318322
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3074582
ClinVar RCV Id:
RCV004014116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Met1063Lys
CA388026129
NM_001243182.2:c.3188T>A