ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645394854
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000328598
RCV001850512
RCV003165795
ClinVar Variation:
294644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ser837Pro
CA1310422
NM_018136.5:c.2509T>C