Allele Registry

Canonical Allele Identifier: PA2826063975

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000187341

RCV000258970

RCV003765172

RCV003891753

ClinVar Variation:

205384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Arg202His	CA314406 NM_001172420.2:c.605G>A