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: EFHC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000360107.4:p.Gln532His	CA364458183 ENST00000371068.9:c.1596G>C CA364458184 ENST00000371068.9:c.1596G>T