ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420938
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2281964
ClinVar RCV Id:
RCV002830982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ser1084Phe
CA344042442
NM_018136.5:c.3251C>T