ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826605660
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493534
ClinVar RCV Id:
RCV000585598
RCV001483521
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.His1359Arg
CA413606147
NM_001282224.2:c.4076A>G