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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:
PA2825003055
Gene: NAT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3176350
ClinVar RCV Id:
RCV004472226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000006.2:p.Gly65Ala
CA370635363
NM_000015.3:c.194G>C