Canonical Allele Identifier: PA645499484
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 234270
ClinVar RCV Id: RCV000876286 RCV001705231 RCV002429079 RCV003937864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Arg844Cys
CA10459290
NM_000052.7:c.2530C>T