ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829382280
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Thr363Met
CA5547484
NM_002778.4:c.1088C>T