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: PA2499238122

Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1014794

ClinVar RCV Id: RCV001313577

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001108225.1:p.Gly301Arg	CA374982438 NM_001114753.3:c.901G>C CA374982440 NM_001114753.3:c.901G>A