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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:
CA254831
Gene:
Linked Data
ClinVar Variation Id:
9556
ClinVar RCV Id:
RCV000010166
RCV000850777
RCV002291209
dbSNP Id:
rs199474673
MyVariant Identifiers:
chrMT:g.5521G>A (hg38)
PubMed:
PMID:9673981
ERepo:
CA254831/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5521G>A , J01415.2:m.5521G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'