Allele Registry

Canonical Allele Identifier: PA645486680

Gene: EFEMP1 HGNC NCBI

ClinVar Allele:

289978

ClinVar RCV:

RCV000320736

RCV001368664

ClinVar Variation:

336632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034437.1:p.Ile45Thr	CA1668989 NM_001039348.3:c.134T>C