ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287531
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390361
ClinVar RCV Id:
RCV000436357
RCV000766977
RCV002525455
RCV003449079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Val1123Leu
CA16603465
NM_001206846.2:c.3367G>C