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: PA2826593506

Gene: ETFDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2511021

ClinVar RCV Id: RCV003244087

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268666.1:p.Val278Phe	CA312537 NM_001281737.2:c.832G>T