Canonical Allele Identifier: PA2825037381
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1101870
ClinVar RCV Id: RCV001424970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Phe678Leu
CA10459189
NM_000052.7:c.2032T>C
CA413598266
NM_000052.7:c.2034T>A
CA413598267
NM_000052.7:c.2034T>G