Allele Registry

Canonical Allele Identifier: PA2826788943

Gene: ECEL1 HGNC NCBI

ClinVar RCV:

RCV000499873

ClinVar Variation:

435022

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277716.1:p.Trp403Cys	CA351000020 NM_001290787.1:c.1209G>T CA351000021 NM_001290787.1:c.1209G>C