ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2573324641
Gene: MT-CO3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9955T= , J01415.2:m.9955T=
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.749T=
ENSP00000354982.2:p.Leu250=
Search 100 bp 5'
Search 100 bp 3'