ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270038
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_000319.1:p.Ala308Pro
CA270037
NM_000328.3:c.922G>C