Canonical Allele Identifier: PA645499312
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 391862
ClinVar RCV Id: RCV000426016 RCV001089330 RCV002282146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Arg344Gly
CA10458986
NM_000052.7:c.1030A>G