ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102251
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97274
ClinVar RCV Id:
RCV000083517
RCV001218092
RCV004019582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ala208Thr
CA224716
NM_000531.6:c.622G>A