Allele Registry

Canonical Allele Identifier: PA102615

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000002147

ClinVar Variation:

2066

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Asp253Tyr	CA115323 NM_018100.3:c.757G>T