ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287218
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145214
RCV000364012
RCV000907317
RCV003965093
ClinVar Variation:
157893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Asn282His
CA271124
NM_001206846.2:c.844A>C