ClinGen Allele Registry
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Canonical Allele Identifier:
CA913170173
Gene: MT-ND5
HGNC
NCBI
Linked Data
dbSNP Id:
rs386829150
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12354T>C , J01415.2:m.12354T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.18T>C
ENSP00000354813.2:p.Thr6=
Search 100 bp 5'
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