ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826638092
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11794
ClinVar RCV Id:
RCV000012561
RCV000789727
RCV001696175
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Thr916Ile
CA256075
NM_001282224.2:c.2747C>T