ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139757123
Gene: PSAT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001165918
RCV001254426
RCV001859073
ClinVar Variation:
912614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478059.1:p.Asp2Tyr
CA5095472
NM_058179.4:c.4G>T