Allele Registry

Canonical Allele Identifier: PA2826063999

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002147

ClinVar Variation:

2066

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Asp234Tyr	CA115323 NM_001172420.2:c.700G>T