ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420904
Gene: ASPM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg627Cys
CA1310632
NM_018136.5:c.1879C>T