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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:
CA913170089
Gene:
Linked Data
ClinVar Variation Id:
986496
ClinVar RCV Id:
RCV003166596
ERepo:
CA913170089/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12316G>A , J01415.2:m.12316G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'