Allele Registry

Canonical Allele Identifier: PA115327

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002150

ClinVar Variation:

2069

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Cys259Tyr	CA115326 NM_018100.3:c.776G>A