Canonical Allele Identifier: PA916012681
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_001269153.1:p.Met665Leu
CA10584646
NM_001282224.2:c.1993A>C
CA413598168
NM_001282224.2:c.1993A>T