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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:
CA120537
Gene:
Linked Data
ClinVar Variation Id:
9549
ClinVar RCV Id:
RCV000010157
RCV000010158
RCV000850667
dbSNP Id:
rs199476144
MyVariant Identifiers:
chrMT:g.1624C>T (hg38)
PubMed:
PMID:11799391
PMID:20301352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.1624C>T , J01415.2:m.1624C>T
GRCh38
Search 100 bp 5'
Search 100 bp 3'