ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828523253
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4446
ClinVar RCV Id:
RCV000004699
RCV002512764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361422.1:p.Gly22Asp
CA278065
NM_001374493.1:c.65G>A