Canonical Allele Identifier: PA116862
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 4458
ClinVar RCV Id: RCV000004712 RCV000004711 RCV000169140 RCV000258030 RCV002243621 RCV002512769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026851.2:p.Ser139Phe
CA116861
NM_001031681.3:c.416C>T