Canonical Allele Identifier: CA1139771347
Gene: MT-CO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1710006
ClinVar RCV Id: RCV002290348
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8156del , J01415.2:m.8156del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361739.1:c.571del ENSP00000354876.1:p.Val191TyrfsTer21
Search 100 bp 5'
Search 100 bp 3'