ClinGen Allele Registry
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Canonical Allele Identifier:
PA224477
Gene: OTC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000522.3:p.Glu52Ter
NM_000531.6:c.[153del;155A>T]
NM_000531.6:c.[153del;155A>T;157A>G]
NM_000531.6:c.154G>T