Allele Registry

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.

Canonical Allele Identifier: PA2825981547

Gene: NEB HGNC NCBI

Linked Data

ClinVar Variation Id: 257814

ClinVar RCV Id: RCV000247985 RCV000514092 RCV001084411

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157979.2:p.Asn1402Lys	CA1910700 NM_001164507.2:c.4206T>A CA348816568 NM_001164507.2:c.4206T>G