Canonical Allele Identifier: PA645413977
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300518
ClinVar RCV Id: RCV000276629 RCV000294309 RCV000333973 RCV000386288
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.Thr337Ser
CA5547544
NM_001042465.3:c.1009A>T
CA377145657
NM_001042465.3:c.1010C>G