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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:
PA2825983140
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235444
ClinVar RCV Id:
RCV000224006
RCV000242273
RCV000557476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157979.2:p.Ile3156Asn
CA1909316
NM_001164507.2:c.9467T>A