ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913194106
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
597524
ClinVar RCV Id:
RCV000733675
RCV001074029
RCV001453353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Leu749Phe
CA4751497
NM_006269.2:c.2245C>T