ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573066178
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195457
ClinVar RCV Id:
RCV000176031
RCV000259243
RCV000314427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Val782Met
CA241888
NM_001145291.2:c.2344G>A