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.Glu510Asp	CA364457949 ENST00000371068.9:c.1530G>T CA364457951 ENST00000371068.9:c.1530G>C