ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA148464
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95352
ClinVar RCV Id:
RCV000081371
RCV000132660
RCV000286823
RCV001257895
RCV001795143
RCV003888440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ala1670Thr
CA148463
NM_006269.2:c.5008G>A