ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012617
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453061
ClinVar RCV Id:
RCV000520631
RCV001834711
RCV002527654
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ile347Thr
CA10458987
NM_001282224.2:c.1040T>C