Canonical Allele Identifier: PA645413946
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300529
ClinVar RCV Id: RCV000294452 RCV000329512 RCV000349338 RCV000384126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002769.1:p.Met76Lys
CA5547842
NM_002778.4:c.227T>A