Canonical Allele Identifier: PA916012583
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 372700
ClinVar RCV Id: RCV000414022 RCV000530559 RCV001828381 RCV003144246 RCV002436234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Thr93Met
CA10458904
NM_001282224.2:c.278C>T