×
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:
PA2826857305
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1935789
ClinVar RCV Id:
RCV002636083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Ala663Thr
CA391360952
NM_001300984.2:c.1987G>A