Canonical Allele Identifier: CA120571

Gene:

Linked Data

• ClinVar Variation Id: 9604
• ClinVar RCV Id: RCV000010227 ; RCV000850716 ; RCV001838978 ; RCV002247292 ; RCV003985254
• dbSNP Id: rs121434468
• COSMIC: COSN1085323 ; COSN1085324 ; COSN1085325 ; COSN1085326 ; COSN1085327 ; COSN1085328 ; COSN1085329
• MyVariant Identifiers: chrMT:g.4284G>A (hg38)
• ERepo: CA120571/MONDO:0044970/014
• PubMed: PMID:11782991 ; PMID:20301693

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4284G>A , J01415.2:m.4284G>A	GRCh38