ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337098493
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693184
ClinVar RCV Id:
RCV000854537
dbSNP Id:
rs386829086
MyVariant Identifiers:
chrMT:g.9577T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9577T>C , J01415.2:m.9577T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.371T>C
ENSP00000354982.2:p.Leu124Pro
Search 100 bp 5'
Search 100 bp 3'