ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828314404
Gene: CPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356185.1:p.Thr13Met
CA2085922
NM_001369256.1:c.38C>T