Canonical Allele Identifier: PA2829382201
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300518
ClinVar RCV Id: RCV000276629 RCV000294309 RCV000333973 RCV000386288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002769.1:p.Thr334Ser
CA5547544
NM_002778.4:c.1000A>T
CA377145657
NM_002778.4:c.1001C>G