ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA913173122
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693836
ClinVar RCV Id:
RCV000855236
dbSNP Id:
rs1603225118
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15164T>C , J01415.2:m.15164T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.418T>C
ENSP00000354554.2:p.Phe140Leu
Search 100 bp 5'
Search 100 bp 3'