ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066526553
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001866.2:p.Thr544Lys
CA2086412
NM_001875.5:c.1631C>A