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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:
PA2825981632
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
257815
ClinVar RCV Id:
RCV000251605
RCV000514932
RCV001081407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157979.2:p.Gly1489Asp
CA1910625
NM_001164507.2:c.4466G>A