Allele Registry

Canonical Allele Identifier: PA097799

Gene: ECEL1 HGNC NCBI

ClinVar RCV:

RCV000171336

RCV000502956

ClinVar Variation:

191152

HGVS (amino-acid)	Matching Registered Transcripts
NP_004817.2:p.Arg404Cys	CA236127 NM_004826.4:c.1210C>T