ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573295559
Gene: PSAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492981
ClinVar RCV Id:
RCV001984019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478059.1:p.Leu40Val
CA373871615
NM_058179.4:c.118C>G