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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
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Canonical Allele Identifier:
CA120549
Gene:
Linked Data
ClinVar Variation Id:
9570
ClinVar RCV Id:
RCV000010183
RCV003162230
dbSNP Id:
rs199474699
MyVariant Identifiers:
chrMT:g.15990C>T (hg38)
ERepo:
CA120549/MONDO:0044970/014
PubMed:
PMID:7689388
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15990C>T , J01415.2:m.15990C>T
GRCh38
Search 100 bp 5'
Search 100 bp 3'