ClinGen Allele Registry
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Canonical Allele Identifier:
CA337100225
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693801
ClinVar RCV Id:
RCV000855196
dbSNP Id:
rs199997767
MyVariant Identifiers:
chrMT:g.14978A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14978A>G , J01415.2:m.14978A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.232A>G
ENSP00000354554.2:p.Ile78Val
Search 100 bp 5'
Search 100 bp 3'