Canonical Allele Identifier: PA645413987
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300508
ClinVar RCV Id: RCV000309664 RCV000407182 RCV000366675 RCV000402799 RCV002520626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.His489Tyr
CA5547329
NM_001042465.3:c.1465C>T