ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645407402
Gene: PRPF8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321921
ClinVar RCV Id:
RCV000397001
RCV002061216
RCV002522915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Met95Val
CA8272663
NM_006445.4:c.283A>G