ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573066112
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193073
ClinVar RCV Id:
RCV000173097
RCV000779449
RCV001376247
RCV004535181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Arg100His
CA238578
NM_001145291.2:c.299G>A