Canonical Allele Identifier: PA123066
Gene: PSAP HGNC NCBI
ClinVar RCV:
RCV000014299
ClinVar Variation:
13370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.Cys385Gly
CA123065
NM_001042465.3:c.1153T>G