ClinGen Allele Registry
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Canonical Allele Identifier:
CA913171987
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693755
ClinVar RCV Id:
RCV000855145
dbSNP Id:
rs1603224853
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14750A>T , J01415.2:m.14750A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.4A>T
ENSP00000354554.2:p.Thr2Ser
Search 100 bp 5'
Search 100 bp 3'