ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828227212
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143094
ClinVar RCV Id:
RCV000132614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Ala307Pro
CA270037
NM_001367250.1:c.919G>C