ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828523129
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189020
ClinVar RCV Id:
RCV000169407
RCV001849327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Ser270del
CA278481
NM_001374492.1:c.809_811del