ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580421068
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2315615
ClinVar RCV Id:
RCV002919331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Thr2744Ile
CA344013827
NM_018136.5:c.8231C>T