ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA658659094
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487804
ClinVar RCV Id:
RCV000577836
dbSNP Id:
rs1556423884
MyVariant Identifiers:
chrMT:g.11032del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11038del , J01415.2:m.11038del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.279del
ENSP00000354961.2:p.Lys93AsnfsTer7
Search 100 bp 5'
Search 100 bp 3'