ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827496176
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2752167
ClinVar RCV Id:
RCV003571235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Gln344Pro
CA355919789
NM_001350155.3:c.1031A>C