ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826638157
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465118
ClinVar RCV Id:
RCV000550411
RCV001547294
RCV001834780
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Thr1081Ala
CA10459417
NM_001282224.2:c.3241A>G