ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414780273
Gene: MT-ND2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.5421G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5421G>C , J01415.2:m.5421G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.952G>C
ENSP00000355046.4:p.Glu318Gln
Search 100 bp 5'
Search 100 bp 3'