Canonical Allele Identifier: PA916012575
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 452221
ClinVar RCV Id: RCV000521317 RCV003766966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ala48Thr
CA413598781
NM_001282224.2:c.142G>A