Canonical Allele Identifier: PA2828523187
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 4456
ClinVar RCV Id: RCV000004709 RCV002512768 RCV003466816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361421.1:p.Asn323Lys
CA253164
NM_001374492.1:c.969C>G
CA397693392
NM_001374492.1:c.969C>A