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: PA2825649210

Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 659931

ClinVar RCV Id: RCV000817023 RCV001766721

ClinVar Variation Id: 863499

ClinVar RCV Id: RCV001070479

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121132.1:p.Glu230Asp	CA338438491 NM_001127660.2:c.690G>C CA338438498 NM_001127660.2:c.690G>T