Allele Registry

Canonical Allele Identifier: PA115319

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002144

RCV000116950

RCV000576851

RCV001668123

RCV003764515

ClinVar Variation:

2063

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Arg182His	CA115318 NM_018100.3:c.545G>A