ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573066118
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197127
ClinVar RCV Id:
RCV000178068
RCV000288799
RCV000346036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Arg265Gln
CA245084
NM_001145291.2:c.794G>A