ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413987
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.His489Tyr
CA5547329
NM_001042465.3:c.1465C>T