Canonical Allele Identifier: PA278464
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 4451
ClinVar RCV Id: RCV000004704 RCV000169004 RCV000514820 RCV000763395 RCV001844005 RCV002512766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026851.2:p.Gly197Arg
CA278463
NM_001031681.3:c.589G>A
CA397691501
NM_001031681.3:c.589G>C