Allele Registry

Canonical Allele Identifier: PA102609

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002146

RCV002227985

ClinVar Variation:

2065

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Asp210Asn	CA115322 NM_018100.3:c.628G>A