ClinGen Allele Registry
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Canonical Allele Identifier:
PA645485006
Gene: CTNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
409914
ClinVar RCV:
RCV000479734
RCV000675105
ClinVar Variation:
422148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004928.2:p.Gln315Arg
CA16620398
NM_004937.3:c.944A>G