ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828816804
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2719392
ClinVar RCV Id:
RCV003553625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Glu259Lys
CA2794591
NM_001379246.1:c.775G>A