ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403404
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035931.1:p.Leu4Val
CA5547944
NM_001042466.3:c.10C>G