ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828315454
Gene: CPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1210385
ClinVar RCV Id:
RCV001580672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356186.1:p.Leu734Met
CA350439435
NM_001369257.1:c.2200T>A