ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818287
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001098226
RCV001722567
RCV002529382
ClinVar Variation:
506686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.His2386Arg
CA1309447
NM_018136.5:c.7157A>G