ClinGen Allele Registry
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Canonical Allele Identifier:
PA171243
Gene: ASPM
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060606.3:p.Tyr2494His
NM_018136.5:c.7480T>C