ClinGen Allele Registry
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Canonical Allele Identifier:
PA271054
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145141
RCV000221848
RCV000950617
ClinVar Variation:
157830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Tyr1742His
CA271053
NM_018136.5:c.5224T>C