ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395001
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294625
ClinVar RCV Id:
RCV000595920
RCV002519464
RCV000315450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg1713His
CA1309807
NM_018136.5:c.5138G>A