ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826638266
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423365
ClinVar RCV Id:
RCV000640892
RCV001722409
RCV002329161
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Val1360Ile
CA10459542
NM_001282224.2:c.4078G>A