ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825584140
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116105.2:p.Thr544Met
CA115525
NM_001122633.3:c.1631C>T