ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403599
Gene: PSAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035931.1:p.Asn215His
CA123063
NM_001042466.3:c.643A>C