ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414775345
Gene: MT-ND2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603219560
MyVariant Identifiers:
chrMT:g.4693T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4693T>C , J01415.2:m.4693T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.224T>C
ENSP00000355046.4:p.Leu75Pro
Search 100 bp 5'
Search 100 bp 3'