Canonical Allele Identifier: PA2828523839
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 189020
ClinVar RCV Id: RCV000169407 RCV001849327
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361424.1:p.Ser123del
CA278481
NM_001374495.1:c.368_370del