Allele Registry

Canonical Allele Identifier: PA2827430185

Gene: ITSN2 HGNC NCBI

ClinVar RCV:

RCV002756065

RCV004067924

ClinVar Variation:

1979700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335114.1:p.Arg718Gln	CA1551271 NM_001348185.2:c.2153G>A