Canonical Allele Identifier: PA252168
Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2280
ClinVar RCV Id: RCV000002369 RCV000199654 RCV000239892 RCV000472857 RCV000624830 RCV000778183 RCV001173687 RCV001775061 RCV002247240 RCV002476912 RCV002285136 RCV002508915 RCV003231070 RCV003319157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055689.1:p.Arg707Trp
CA252166
NM_014874.4:c.2119C>T