ClinGen Allele Registry
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Canonical Allele Identifier:
CA337100164
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000855159
ClinVar Variation:
693768
dbSNP:
28357681
MyVariant.info:
GRCh38
chrMT:g.14798T>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14798T>C , J01415.2:m.14798T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.52T>C
ENSP00000354554.2:p.Phe18Leu
Search 100 bp 5'
Search 100 bp 3'