Allele Registry

Canonical Allele Identifier: PA915989691

Gene: EVC2 HGNC NCBI

ClinVar RCV:

RCV000384115

RCV002480041

ClinVar Variation:

289224

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159608.1:p.Ser97Leu	CA2835410 NM_001166136.1:c.290C>T