ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825139869
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438190
ClinVar RCV Id:
RCV000504664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Leu516Pro
CA355916145
NM_000283.4:c.1547T>C