Canonical Allele Identifier: CA915952200
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692466
ClinVar RCV Id: RCV000853781
dbSNP Id: rs1603219523
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4611del , J01415.2:m.4611del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.142del ENSP00000355046.4:p.Ile48Ter
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