ClinGen Allele Registry
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Canonical Allele Identifier:
CA337100003
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000855090
ClinVar Variation:
693709
dbSNP:
28357675
MyVariant.info:
GRCh38
chrMT:g.14318T>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14318T>C , J01415.2:m.14318T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361681.2:c.356A>G
ENSP00000354665.2:p.Asn119Ser
Search 100 bp 5'
Search 100 bp 3'