Allele Registry

Canonical Allele Identifier: PA102585

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000187341

RCV000258970

RCV003765172

RCV003891753

ClinVar Variation:

205384

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Arg221His	CA314406 NM_018100.3:c.662G>A