Allele Registry

Canonical Allele Identifier: PA2826063998

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV002242467

ClinVar Variation:

1035636

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Asp234Asn	CA138977749 NM_001172420.2:c.700G>A