ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743432
Gene: CTNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361425.1:p.Val74Met
CA8291811
NM_001374496.1:c.220G>A