Canonical Allele Identifier: PA916012628
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 533673
ClinVar RCV Id: RCV000640895 RCV001508046 RCV002388073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Pro462Leu
CA10459045
NM_001282224.2:c.1385C>T