Allele Registry

Canonical Allele Identifier: PA2826788909

Gene: ECEL1 HGNC NCBI

ClinVar Allele:

511407

ClinVar RCV:

RCV000623280

RCV000787365

RCV001756022

RCV001809702

ClinVar Variation:

521056

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277716.1:p.Leu165Pro	CA2167588 NM_001290787.1:c.494T>C