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
ENSP00000509233.1:p.Val172Leu
CA413600181
ENST00000686133.1:c.514G>C
CA413600182
ENST00000686133.1:c.514G>T