ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605069
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243112
ClinVar RCV Id:
RCV000529093
RCV001085537
RCV002450718
RCV003311726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Arg766His
CA10459291
NM_001282224.2:c.2297G>A