ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414773203
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692381
ClinVar RCV Id:
RCV000853687
dbSNP Id:
rs1603219061
COSMIC:
COSM1155619
COSM1155620
MyVariant Identifiers:
chrMT:g.3643G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3643G>A , J01415.2:m.3643G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.337G>A
ENSP00000354687.2:p.Val113Ile
Search 100 bp 5'
Search 100 bp 3'