ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA209775
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000195143
RCV000725997
RCV001096687
RCV002517054
ClinVar Variation:
210357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Lys1479Arg
CA209774
NM_018136.5:c.4436A>G