ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287762
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000416559
ClinVar Variation:
375460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Arg1723Leu
CA16044274
NM_001206846.2:c.5168G>T