ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573223689
Gene: CTPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001896.2:p.Ile39Val
CA339901259
NM_001905.4:c.115A>G