ClinGen Allele Registry
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Canonical Allele Identifier:
CA345760
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143926
ClinVar RCV Id:
RCV000133457
dbSNP Id:
rs193302996
MyVariant Identifiers:
chrMT:g.15607A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15607A>G , J01415.2:m.15607A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.861A>G
ENSP00000354554.2:p.Lys287=
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