ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580260867
Gene: CTPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001896.2:p.Val111Ala
CA339901760
NM_001905.4:c.332T>C