ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287348
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2439259
ClinVar RCV Id:
RCV003141594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Arg627Cys
CA1310632
NM_001206846.2:c.1879C>T