ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271119
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157890
ClinVar RCV Id:
RCV000145211
RCV000710649
RCV003905253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Phe2735Val
CA271118
NM_018136.5:c.8203T>G