ClinGen Allele Registry
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Canonical Allele Identifier:
CA414822693
Gene: MT-ND6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.14484T>A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14484T>A , J01415.2:m.14484T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.190A>T
ENSP00000354665.2:p.Met64Leu
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