ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096244
Gene: PSAT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_478059.1:p.Ala99Val
NM_058179.4:c.296C>T
NM_058179.4:c.296_297delinsTG