ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829969165
Gene: PSAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1994959
ClinVar RCV Id:
RCV002791523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066977.1:p.Thr120Ala
CA373872507
NM_021154.5:c.358A>G