ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825139621
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349312
ClinVar RCV Id:
RCV000282880
RCV000379626
RCV001340998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Leu228Ile
CA2794053
NM_000283.4:c.682C>A