ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420949
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012864
ClinVar RCV Id:
RCV002843432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Lys1195Arg
CA344040112
NM_018136.5:c.3584A>G