Allele Registry

Canonical Allele Identifier: PA2827430017

Gene: ITSN2 HGNC NCBI

ClinVar RCV:

RCV003549034

RCV004286748

ClinVar Variation:

2512103

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335113.1:p.Arg444His	CA1551498 NM_001348184.2:c.1331G>A