Canonical Allele Identifier: PA645499322
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 429718
ClinVar RCV Id: RCV001241257 RCV001835828 RCV001696820 RCV003424044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Pro462Ala
CA10459044
NM_000052.7:c.1384C>G