Canonical Allele Identifier: PA2573073037
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 4451
ClinVar RCV Id: RCV000004704 RCV000169004 RCV000514820 RCV000763395 RCV001844005 RCV002512766
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361425.1:p.Gly50Arg
CA278463
NM_001374496.1:c.148G>A
CA397691501
NM_001374496.1:c.148G>C