Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2580187550

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2174630

ClinVar RCV Id: RCV002588031

ClinVar Variation Id: 2936394

ClinVar RCV Id: RCV003796680

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Gln704His	CA413598447 NM_001282224.2:c.2112G>C CA413598448 NM_001282224.2:c.2112G>T