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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
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Canonical Allele Identifier:
PA224791
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97327
ClinVar RCV Id:
RCV000083574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Thr264Asn
CA224790
NM_000531.6:c.791C>A