ClinGen Allele Registry
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Canonical Allele Identifier:
CA10581367
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235581
ClinVar RCV Id:
RCV000224196
dbSNP Id:
rs41504845
MyVariant Identifiers:
chrMT:g.15833C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15833C>T , J01415.2:m.15833C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.1087C>T
ENSP00000354554.2:p.Leu363=
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