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: PA915970368

Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 637315

ClinVar RCV Id: RCV000789419 RCV001204495

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055689.1:p.His361Tyr	CA338442849 NM_014874.4:c.1081C>T