ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312403
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116105.1:p.Met62Arg
CA312400
NM_001122633.2:c.185T>G