ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420936
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2193108
ClinVar RCV Id:
RCV002623875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Thr1076Lys
CA1310221
NM_018136.5:c.3227C>A