ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580501911
Gene: PSAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478059.1:p.Ser238Cys
CA373874444
NM_058179.4:c.713C>G