ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047578
Gene: CPS1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001356185.1:p.His348Arg
NM_001369256.1:c.1043A>G