This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Gln197His
CA413600358
NM_001282224.2:c.591A>C
CA413600359
NM_001282224.2:c.591A>T