Allele Registry

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: ABCA5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000465351.1:p.Gln393His	CA400824596 ENST00000586811.1:c.1179G>T CA400824598 ENST00000586811.1:c.1179G>C