ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829382338
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Cys382Phe
CA123059
NM_002778.4:c.1145G>T