ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116862
Gene: CTNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026851.2:p.Ser139Phe
CA116861
NM_001031681.3:c.416C>T