ClinGen Allele Registry
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Canonical Allele Identifier:
CA270623
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143899
ClinVar RCV Id:
RCV000133438
dbSNP Id:
rs527236194
MyVariant Identifiers:
chrMT:g.15784T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15784T>C , J01415.2:m.15784T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.1038T>C
ENSP00000354554.2:p.Pro346=
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