ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828522967
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1388528
ClinVar RCV Id:
RCV002554125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Ser120Asn
CA397690603
NM_001374492.1:c.359G>A