ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573066170
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225435
ClinVar RCV Id:
RCV000490521
RCV001314935
RCV003888644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Thr604Ile
CA2794688
NM_001145291.2:c.1811C>T