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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:
CA2502700903
Gene:
Linked Data
dbSNP Id:
rs2128095492
gnomAD v3:
7-26143245-C-CACAA
gnomAD v4:
7-26143245-C-CACAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.26143248_26143249insAACA , CM000669.2:g.26143248_26143249insAACA
GRCh38
NC_000007.13:g.26182868_26182869insAACA , CM000669.1:g.26182868_26182869insAACA
GRCh37
NC_000007.12:g.26149393_26149394insAACA
NCBI36
Search 100 bp 5'
Search 100 bp 3'