ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573271743
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1501370
ClinVar RCV Id:
RCV002042798
RCV003303615
RCV003453950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ile492Val
CA1310704
NM_018136.5:c.1474A>G