×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA104423
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
955
ClinVar RCV Id:
RCV000001006
RCV000310636
RCV000477815
RCV000623104
RCV002251850
RCV003415611
RCV003466772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Val443Ile
CA251634
NM_000275.3:c.1327G>A