ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287553
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000502887
RCV000710631
RCV000763786
RCV004021407
ClinVar Variation:
294639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Ser1189Phe
CA1310142
NM_001206846.2:c.3566C>T