ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828524040
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2145535
ClinVar RCV Id:
RCV003071485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361425.1:p.Met140Thr
CA8291941
NM_001374496.1:c.419T>C