ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802261
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533671
ClinVar RCV Id:
RCV000640891
RCV001756068
RCV002449008
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Tyr760Cys
CA10459249
NM_000052.7:c.2279A>G