ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414804098
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693252
ClinVar RCV Id:
RCV000854607
RCV003334023
dbSNP Id:
rs1556423753
MyVariant Identifiers:
chrMT:g.9957T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9957T>C , J01415.2:m.9957T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.751T>C
ENSP00000354982.2:p.Phe251Leu
Search 100 bp 5'
Search 100 bp 3'