Canonical Allele Identifier: PA645413983
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300514
ClinVar RCV Id: RCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV001833438 RCV002262951 RCV002520627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.Thr394Met
CA5547470
NM_001042465.3:c.1181C>T