ClinGen Allele Registry
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Canonical Allele Identifier:
PA271068
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145153
RCV000329933
RCV000910458
RCV003895022
ClinVar Variation:
157842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.His1949Arg
CA271067
NM_018136.5:c.5846A>G