Allele Registry

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.

Canonical Allele Identifier: PA2825185357

Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2721222

ClinVar RCV Id: RCV003511067

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000522.3:p.Thr49Ile	CA412716108 NM_000531.6:c.146C>T