ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139757949
Gene: PSAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
977035
ClinVar RCV Id:
RCV001254554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478059.1:p.Leu128Phe
CA5095594
NM_058179.4:c.382C>T