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: PA2825658693

Gene: ETFA HGNC NCBI

Linked Data

ClinVar Variation Id: 2594

ClinVar RCV Id: RCV000002712 RCV000185868 RCV000332032 RCV003904798

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121188.1:p.Thr217Met	CA115638 NM_001127716.2:c.650C>T