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: PA253685

Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 6027

ClinVar RCV Id: RCV000006398 RCV001385135

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177312.1:p.Ala557Thr	CA253683 NM_001190383.3:c.1669G>A