ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828315484
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356186.1:p.Arg780His
CA2086609
NM_001369257.1:c.2339G>A