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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:
CA1526182239
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.8652878_8652881delinsACCT , CM000667.2:g.8652878_8652881delinsACCT
GRCh38
NC_000005.9:g.8652990_8652993delinsACCT , CM000667.1:g.8652990_8652993delinsACCT
GRCh37
NC_000005.8:g.8705990_8705993delinsACCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'