ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115536
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116106.1:p.Asn948Thr
CA115532
NM_001122634.3:c.2843A>C