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.Ser518Arg	CA364458092 ENST00000371068.9:c.1552A>C CA364458097 ENST00000371068.9:c.1554C>G CA364458098 ENST00000371068.9:c.1554C>A