ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828523179
Gene: CTNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361421.1:p.Gln315Arg
CA16620398
NM_001374492.1:c.944A>G