ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828523768
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21440
ClinVar RCV Id:
RCV000020625
RCV000590697
RCV002513141
RCV003105775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361424.1:p.Asp58Asn
CA342077
NM_001374495.1:c.172G>A