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
ENSP00000343026.5:p.His183Gln
CA413600263
ENST00000343533.9:c.549T>A
CA413600264
ENST00000343533.9:c.549T>G