Canonical Allele Identifier: PA1139691759
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 943884
ClinVar RCV Id: RCV001214165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ser698Phe
CA413598408
NM_001282224.2:c.2093C>T