ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139757843
Gene: PSAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
913717
ClinVar RCV Id:
RCV001167492
RCV001254448
RCV001873553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478059.1:p.Ala112Val
CA5095584
NM_058179.4:c.335C>T