ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826605064
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465113
ClinVar RCV Id:
RCV000555196
RCV001508049
RCV002431615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Glu762Val
CA10459289
NM_001282224.2:c.2285A>T