ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742389
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_001356185.1:p.Pro757Thr
CA2086591
NM_001369256.1:c.2269C>A