ClinGen Allele Registry
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Canonical Allele Identifier:
PA288792
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116105.1:p.Thr1412Asn
CA288789
NM_001122633.2:c.4235C>A