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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA120584
Gene:
Linked Data
ClinVar Variation Id:
9621
ClinVar RCV Id:
RCV000010246
dbSNP Id:
rs199476131
MyVariant Identifiers:
chrMT:g.5692T>C (hg38)
PubMed:
PMID:7980504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.5692T>C , J01415.2:m.5692T>C | GRCh38 |