×
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:
PA103245
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97330
ClinVar RCV Id:
RCV000083577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Trp265Leu
CA224795
NM_000531.6:c.794G>T