ClinGen Allele Registry
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Canonical Allele Identifier:
CA414773132
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692377
ClinVar RCV Id:
RCV000853683
dbSNP Id:
rs1556422761
MyVariant Identifiers:
chrMT:g.3607G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3607G>A , J01415.2:m.3607G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.301G>A
ENSP00000354687.2:p.Gly101Ser
Search 100 bp 5'
Search 100 bp 3'