ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271135
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145220
RCV000609920
RCV001857498
RCV002512567
ClinVar Variation:
157899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ile2914Thr
CA271134
NM_018136.5:c.8741T>C