Allele Registry

Canonical Allele Identifier: PA271501

Gene: ESCO2 HGNC NCBI

ClinVar RCV:

RCV000145965

RCV000999013

ClinVar Variation:

158573

HGVS (amino-acid)	Matching Registered Transcripts
NP_001017420.1:p.Cys392Tyr	CA271500 NM_001017420.3:c.1175G>A