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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:
CA2678611375
Gene:
Linked Data
gnomAD v4:
6-39048762-CGCCCGCCACCA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.39048768_39048778del , CM000668.2:g.39048768_39048778del
GRCh38
NC_000006.11:g.39016544_39016554del , CM000668.1:g.39016544_39016554del
GRCh37
NC_000006.10:g.39124522_39124532del
NCBI36
Search 100 bp 5'
Search 100 bp 3'