ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA115398
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2193
ClinVar RCV Id:
RCV000002277
RCV000726920
RCV001074376
RCV001197672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Arg45Trp
CA115397
NM_178857.5:c.133C>T