Canonical Allele Identifier: PA645413985
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300512
ClinVar RCV Id: RCV000267782 RCV000320675 RCV000360171 RCV000377595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.Arg424Cys
CA5547418
NM_001042465.3:c.1270C>T