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
ENSP00000510310.1:p.Glu514Asp
CA413595153
ENST00000687416.1:c.1542A>C
CA413595154
ENST00000687416.1:c.1542A>T