ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828523100
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2146761
ClinVar RCV Id:
RCV003076840
RCV004070410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Gly239Ser
CA8291868
NM_001374492.1:c.715G>A