ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287761
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145242
RCV000176582
RCV000991554
RCV003905254
ClinVar Variation:
157919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Arg1719Gln
CA202013
NM_001206846.2:c.5156G>A