Allele Registry

Canonical Allele Identifier: PA2826064003

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002150

ClinVar Variation:

2069

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Cys240Tyr	CA115326 NM_001172420.2:c.719G>A