ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358237
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000210715
RCV000328675
RCV001289245
RCV002054357
ClinVar Variation:
225111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Gln1940Glu
CA358236
NM_018136.5:c.5818C>G