ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271123
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145213
RCV000907959
ClinVar Variation:
157892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ala2817Ser
CA271122
NM_018136.5:c.8449G>T