ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395094
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294615
ClinVar RCV Id:
RCV000340582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ile2246Val
CA10608706
NM_018136.5:c.6736A>G