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: PA2741832180

Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 2713291

ClinVar RCV Id: RCV003518218

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075223.1:p.Gln447Glu	CA367881956 NM_001081754.3:c.1339C>G