ClinGen Allele Registry
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Canonical Allele Identifier:
PA271085
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145168
RCV000210594
RCV000342070
RCV000710641
RCV003917437
ClinVar Variation:
157855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Glu216Lys
CA271084
NM_018136.5:c.646G>A