Canonical Allele Identifier: PA2826638151
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1417480
ClinVar RCV Id: RCV001938401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Lys1054Asn
CA10459411
NM_001282224.2:c.3162G>T
CA413604062
NM_001282224.2:c.3162G>C