ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420945
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2491903
ClinVar RCV Id:
RCV003212960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ser1185Cys
CA344040183
NM_018136.5:c.3554C>G