ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829883971
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3130492
ClinVar RCV Id:
RCV004420907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Lys2238Gln
CA1309538
NM_018136.5:c.6712A>C