ClinGen Allele Registry
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Canonical Allele Identifier:
PA271048
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145135
RCV000726421
RCV003965091
ClinVar Variation:
157825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg1578Gln
CA271047
NM_018136.5:c.4733G>A