Allele Registry

Canonical Allele Identifier: PA1139757875

Gene: PSAT1 HGNC NCBI

ClinVar RCV:

RCV001254499

RCV001254500

RCV002570563

ClinVar Variation:

976987

976988

HGVS (amino-acid)	Matching Registered Transcripts
NP_478059.1:p.Lys116Asn	CA5095588 NM_058179.4:c.348G>C CA373872482 NM_058179.4:c.348G>T