×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337100181
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693781
ClinVar RCV Id:
RCV000855175
dbSNP Id:
rs28660155
MyVariant Identifiers:
chrMT:g.14871T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14871T>C , J01415.2:m.14871T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.125T>C
ENSP00000354554.2:p.Ile42Thr
Search 100 bp 5'
Search 100 bp 3'