ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099049
Gene: MT-ND4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.10915T>G
Linked Data - NCBI & NCI
ClinVar Allele:
680218
ClinVar RCV:
RCV000854690
ClinVar Variation:
693328
dbSNP:
2857285
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10915T>G , J01415.2:m.10915T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.156T>G
ENSP00000354961.2:p.Cys52Trp
Search 100 bp 5'
Search 100 bp 3'