ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403225
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Cys198Tyr
CA377151589
NM_001042465.3:c.593G>A