ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16603348
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377340
ClinVar RCV Id:
RCV000426885
RCV000853737
dbSNP Id:
rs1057520201
MyVariant Identifiers:
chrMT:g.4132G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4132G>A , J01415.2:m.4132G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.826G>A
ENSP00000354687.2:p.Ala276Thr
Search 100 bp 5'
Search 100 bp 3'