ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403749
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13364
ClinVar RCV Id:
RCV000014292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035931.1:p.Cys384Phe
CA123059
NM_001042466.3:c.1151G>T