ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573066167
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418401
ClinVar RCV Id:
RCV000479658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Gly576Ser
CA2794667
NM_001145291.2:c.1726G>A