Canonical Allele Identifier: PA2825036973
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 970547
ClinVar RCV Id: RCV001246132 RCV001829979 RCV002339682 RCV003883589
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Val172Met
CA10458932
NM_000052.7:c.514G>A