Canonical Allele Identifier: PA123060
Gene: PSAP HGNC NCBI
ClinVar Allele:
28403
ClinVar RCV:
RCV000014292
ClinVar Variation:
13364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035930.1:p.Cys385Phe
CA123059
NM_001042465.3:c.1154G>T