Canonical Allele Identifier: PA645499434
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 246211
ClinVar RCV Id: RCV000237067 RCV002518449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Met665Leu
CA10584646
NM_000052.7:c.1993A>C
CA413598168
NM_000052.7:c.1993A>T