Canonical Allele Identifier: PA277239
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 210418
ClinVar RCV Id: RCV000193991 RCV001857689 RCV002517916 RCV003227709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Gly727Arg
CA277238
NM_000052.7:c.2179G>A
CA413598602
NM_000052.7:c.2179G>C