Canonical Allele Identifier: PA2580187492
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1779737
ClinVar RCV Id: RCV002401780
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Arg590Lys
CA413597068
NM_001282224.2:c.1769G>A