ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499710
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_000043.4:p.Val1438Ile
CA10459542
NM_000052.7:c.4312G>A