ClinGen Allele Registry
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Canonical Allele Identifier:
CA414818776
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693581
ClinVar RCV Id:
RCV000854957
dbSNP Id:
rs1603224267
MyVariant Identifiers:
chrMT:g.13616T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13616T>C , J01415.2:m.13616T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1280T>C
ENSP00000354813.2:p.Ile427Thr
Search 100 bp 5'
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