ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913174686
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693938
ClinVar RCV Id:
RCV000855356
dbSNP Id:
rs1556424652
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15731G>A , J01415.2:m.15731G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.985G>A
ENSP00000354554.2:p.Ala329Thr
Search 100 bp 5'
Search 100 bp 3'