ClinGen Allele Registry
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Canonical Allele Identifier:
CA414772961
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692366
ClinVar RCV Id:
RCV000853671
dbSNP Id:
rs878982767
MyVariant Identifiers:
chrMT:g.3523A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3523A>G , J01415.2:m.3523A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.217A>G
ENSP00000354687.2:p.Thr73Ala
Search 100 bp 5'
Search 100 bp 3'