Allele Registry

Canonical Allele Identifier: PA2828523591

Gene: CTNS HGNC NCBI

ClinVar RCV:

RCV000248355

RCV000339531

RCV000380229

RCV000675697

RCV001274181

RCV002518596

ClinVar Variation:

257157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361423.1:p.Thr113Ile	CA8291893 NM_001374494.1:c.338C>T