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: PA2826581463

Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1326541

ClinVar RCV Id: RCV001786721 RCV003365450

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265067.1:p.Glu171Gly	CA200312628 NM_001278138.2:c.512A>G