ClinGen Allele Registry
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Canonical Allele Identifier:
PA645394916
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294635
ClinVar RCV Id:
RCV000388841
RCV000946545
RCV001252172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg1264His
CA1310078
NM_018136.5:c.3791G>A