ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828522958
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4457
ClinVar RCV Id:
RCV000004710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Gly110Val
CA116859
NM_001374492.1:c.329G>T