ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828315466
Gene: CPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474803
ClinVar RCV Id:
RCV001973652
RCV002573417
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356186.1:p.Val753Ile
CA350439555
NM_001369257.1:c.2257G>A