ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825348009
Gene: CTNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
322842
ClinVar RCV Id:
RCV000284539
RCV000374508
RCV001274180
RCV002522942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026851.2:p.Arg232His
CA8291860
NM_001031681.3:c.695G>A