ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099364
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001866.2:p.Gly317Glu
CA350430393
NM_001875.5:c.950G>A