ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047560
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356185.1:p.Met67Arg
CA312400
NM_001369256.1:c.200T>G