Canonical Allele Identifier: CA915952197
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692374
ClinVar RCV Id: RCV000853680
dbSNP Id: rs1603219020

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3571del , J01415.2:m.3571del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.265del ENSP00000354687.2:p.Leu89SerfsTer12