ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099022
Gene: CPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000813104
RCV002495136
RCV003467464
ClinVar Variation:
656636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001866.2:p.Arg803Gly
CA2086633
NM_001875.5:c.2407C>G