Canonical Allele Identifier: CA353618
Gene: MT-ND6 HGNC NCBI
ClinVar RCV:
RCV000210344
ClinVar Variation:
224776
dbSNP:
869312882
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14248dup , J01415.2:m.14248dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361681.2:c.430dup ENSP00000354665.2:p.Ala144GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'