ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099628
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000854894
ClinVar Variation:
693519
dbSNP:
2853501
MyVariant.info:
GRCh38
chrMT:g.13105A>G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13105A>G , J01415.2:m.13105A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.769A>G
ENSP00000354813.2:p.Ile257Val
Search 100 bp 5'
Search 100 bp 3'