Canonical Allele Identifier: PA2828523050
Gene: CTNS HGNC NCBI

Amino-acid Alleles

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