ClinGen Allele Registry
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Canonical Allele Identifier:
CA414819375
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693598
ClinVar RCV Id:
RCV000854976
dbSNP Id:
rs1603224336
MyVariant Identifiers:
chrMT:g.13753T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13753T>C , J01415.2:m.13753T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1417T>C
ENSP00000354813.2:p.Ser473Pro
Search 100 bp 5'
Search 100 bp 3'