Allele Registry

Canonical Allele Identifier: PA2499284392

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV002242467

ClinVar Variation:

1035636

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Asp253Asn	CA138977749 NM_018100.3:c.757G>A