Allele Registry

Canonical Allele Identifier: PA174030

Gene: ECEL1 HGNC NCBI

ClinVar RCV:

RCV000148953

RCV001588999

ClinVar Variation:

161451

HGVS (amino-acid)	Matching Registered Transcripts
NP_004817.2:p.Ala675Thr	CA174029 NM_004826.4:c.2023G>A