ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278066
Gene: CTNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001026851.2:p.Gly169Asp
NM_001031681.3:c.506G>A