ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395240
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000307688
RCV000339532
RCV003967741
ClinVar Variation:
284745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ser3297Tyr
CA1308829
NM_018136.5:c.9890C>A