Allele Registry

Canonical Allele Identifier: PA115325

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002149

ClinVar Variation:

2068

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Ile174Val	CA115324 NM_018100.3:c.520A>G