ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828315462
Gene: CPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
991591
ClinVar RCV Id:
RCV001279828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356186.1:p.Pro746Thr
CA2086591
NM_001369257.1:c.2236C>A