ClinGen Allele Registry
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Canonical Allele Identifier:
CA120619
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9681
ClinVar RCV Id:
RCV000010319
RCV000855232
RCV002247305
dbSNP Id:
rs207460000
MyVariant Identifiers:
chrMT:g.15150G>A (hg38)
PubMed:
PMID:11464242
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15150G>A , J01415.2:m.15150G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.404G>A
ENSP00000354554.2:p.Ter135=
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