ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828523169
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012992
ClinVar RCV Id:
RCV002856373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Leu304Pro
CA397693145
NM_001374492.1:c.911T>C