ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580420894
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982299
ClinVar RCV Id:
RCV002766683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Pro487Leu
CA35861079
NM_018136.5:c.1460C>T