ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403728
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300515
ClinVar RCV Id:
RCV000301263
RCV000335258
RCV000390963
RCV000390949
RCV001356155
RCV001828310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035931.1:p.Thr365Met
CA5547484
NM_001042466.3:c.1094C>T