ClinGen Allele Registry
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Canonical Allele Identifier:
PA116858
Gene: CTNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19486
ClinVar RCV:
RCV000004700
RCV000276289
RCV000333816
RCV000440461
RCV001276655
RCV001699175
RCV002512765
RCV003914807
ClinVar Variation:
4447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026851.2:p.Val42Ile
CA116857
NM_001031681.3:c.124G>A