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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:
CA913170091
Gene:
Linked Data
ClinVar Variation Id:
1684920
ClinVar RCV Id:
RCV002248012
dbSNP Id:
rs2124597137
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12317T>C , J01415.2:m.12317T>C
GRCh38
Search 100 bp 5'
Search 100 bp 3'