Allele Registry

Canonical Allele Identifier: PA2828523050

Gene: CTNS HGNC NCBI

ClinVar RCV:

RCV002786022

ClinVar Variation:

1986227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361421.1:p.Val198Leu	CA397691506 NM_001374492.1:c.592G>C CA397691507 NM_001374492.1:c.592G>T