Canonical Allele Identifier: PA2828523035
Gene: CTNS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361421.1:p.Trp182Cys
CA397691390
NM_001374492.1:c.546G>C
CA397691391
NM_001374492.1:c.546G>T