ClinGen Allele Registry
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Canonical Allele Identifier:
CA270617
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143892
ClinVar RCV Id:
RCV000133431
RCV000224601
dbSNP Id:
rs527236187
MyVariant Identifiers:
chrMT:g.15470T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15470T>C , J01415.2:m.15470T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.724T>C
ENSP00000354554.2:p.Leu242=
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