ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099277
Gene: MT-ND4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.11719G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003887817
ClinVar Variation:
3027424
dbSNP:
2853495
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11719G>A , J01415.2:m.11719G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.960G>A
ENSP00000354961.2:p.Gly320=
Search 100 bp 5'
Search 100 bp 3'