ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826287232
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020814
RCV000914111
RCV003964808
ClinVar Variation:
21624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Ile313Val
CA342295
NM_001206846.2:c.937A>G