Allele Registry

Canonical Allele Identifier: PA2826063967

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002146

RCV002227985

ClinVar Variation:

2065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Asp191Asn	CA115322 NM_001172420.2:c.571G>A