Allele Registry

Canonical Allele Identifier: PA314421

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000187349

ClinVar Variation:

205392

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Arg276Gly	CA314420 NM_018100.3:c.826C>G