ClinGen Allele Registry
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Canonical Allele Identifier:
CA913172991
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693828
ClinVar RCV Id:
RCV000855227
RCV001796804
dbSNP Id:
rs1603225092
ERepo:
CA913172991/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15117T>C , J01415.2:m.15117T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.371T>C
ENSP00000354554.2:p.Ile124Thr
Search 100 bp 5'
Search 100 bp 3'