ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123056
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Thr217Ile
CA123055
NM_001042465.3:c.650C>T