ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828523767
Gene: CTNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000169014
RCV000258027
RCV002516526
ClinVar Variation:
188718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361424.1:p.Asp58del
CA278466
NM_001374495.1:c.173_175del