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
ENSP00000489854.1:p.Glu517Asp	CA364458090 ENST00000637089.1:c.1551G>C CA364458091 ENST00000637089.1:c.1551G>T