ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414812654
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693417
ClinVar RCV Id:
RCV000854785
dbSNP Id:
rs1603223562
MyVariant Identifiers:
chrMT:g.12134T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12134T>C , J01415.2:m.12134T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1375T>C
ENSP00000354961.2:p.Ser459Pro
Search 100 bp 5'
Search 100 bp 3'