ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012653
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
517141
ClinVar RCV Id:
RCV000615428
RCV001755993
RCV003767739
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Val597Met
CA10459109
NM_001282224.2:c.1789G>A