ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828522988
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4458
ClinVar RCV Id:
RCV000004712
RCV000004711
RCV000169140
RCV000258030
RCV002243621
RCV002512769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Ser139Phe
CA116861
NM_001374492.1:c.416C>T