ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099547
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001866.2:p.His337Arg
NM_001875.5:c.1010A>G