ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826287642
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000727434
RCV001101795
RCV004020707
ClinVar Variation:
234656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Tyr1404Cys
CA1309103
NM_001206846.2:c.4211A>G