ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828591491
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362335.1:p.Thr517Ala
CA3386899
NM_001375406.1:c.1549A>G