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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:
PA2825982666
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1020347
ClinVar RCV Id:
RCV001319915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157979.2:p.Ala2612Thr
CA1909748
NM_001164507.2:c.7834G>A