ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828523294
Gene: CTNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020625
RCV000590697
RCV002513141
RCV003105775
ClinVar Variation:
21440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361422.1:p.Asp58Asn
CA342077
NM_001374493.1:c.172G>A