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
ENSP00000343026.6:p.Gln714His
CA413598447
ENST00000343533.10:c.2142G>C
CA413598448
ENST00000343533.10:c.2142G>T