Allele Registry

Canonical Allele Identifier: PA2826064038

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000431419

RCV003147458

ClinVar Variation:

383453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Ile296Phe	CA16605059 NM_001172420.2:c.886A>T