ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658654831
Gene: CEP120
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446148
ClinVar RCV Id:
RCV000515145
RCV001268429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694955.2:p.Ala549Val
CA3386908
NM_153223.4:c.1646C>T