Allele Registry

Canonical Allele Identifier: PA2826063950

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002144

RCV000116950

RCV000576851

RCV001668123

RCV003764515

ClinVar Variation:

2063

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Arg163His	CA115318 NM_001172420.2:c.488G>A