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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:
CA914950171
Gene:
Linked Data
gnomAD v2:
4-55997450-A-AAGACATC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55131285_55131291dup , CM000666.2:g.55131285_55131291dup
GRCh38
NC_000004.11:g.55997452_55997458dup , CM000666.1:g.55997452_55997458dup
GRCh37
NC_000004.10:g.55692209_55692215dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'