ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2499569058
Gene: MT-CYB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15500G= , J01415.2:m.15500G=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.754G=
ENSP00000354554.2:p.Asp252=
Search 100 bp 5'
Search 100 bp 3'