ClinGen Allele Registry
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Canonical Allele Identifier:
CA414805414
Gene: MT-ND3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693289
ClinVar RCV Id:
RCV000854649
dbSNP Id:
rs1603222820
MyVariant Identifiers:
chrMT:g.10399C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10399C>T , J01415.2:m.10399C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361227.2:c.341C>T
ENSP00000355206.2:p.Thr114Ile
Search 100 bp 5'
Search 100 bp 3'