ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827496173
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349388
ClinVar RCV Id:
RCV000292745
RCV000387116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Pro340Leu
CA10621522
NM_001350155.3:c.1019C>T