ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099032
Gene: CPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000185819
ClinVar Variation:
203650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001866.2:p.Arg803Ser
CA312397
NM_001875.5:c.2407C>A