ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123060
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_001035930.1:p.Cys385Phe
CA123059
NM_001042465.3:c.1154G>T