ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573272015
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1469733
ClinVar RCV Id:
RCV001995031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ile2246Leu
CA344021634
NM_018136.5:c.6736A>C