ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913175112
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693973
ClinVar RCV Id:
RCV000855398
dbSNP Id:
rs1603225562
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15885C>T , J01415.2:m.15885C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.1139C>T
ENSP00000354554.2:p.Ala380Val
Search 100 bp 5'
Search 100 bp 3'