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: PA224470

Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97116

ClinVar RCV Id: RCV000083344 RCV003485536

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000522.3:p.Thr49Pro	CA224469 NM_000531.6:c.145A>C