Canonical Allele Identifier: PA2828524077
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_001361425.1:p.Asn176Lys
CA253164
NM_001374496.1:c.528C>G
CA397693392
NM_001374496.1:c.528C>A