ClinGen Allele Registry
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Canonical Allele Identifier:
CA414774393
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692433
ClinVar RCV Id:
RCV000853746
dbSNP Id:
rs1603219346
MyVariant Identifiers:
chrMT:g.4193T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4193T>C , J01415.2:m.4193T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.887T>C
ENSP00000354687.2:p.Leu296Pro
Search 100 bp 5'
Search 100 bp 3'