ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420891
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012550
ClinVar RCV Id:
RCV002843199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Val455Ala
CA344016613
NM_018136.5:c.1364T>C