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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:
CA2596809843
Gene:
Linked Data
gnomAD v3:
14-81871347-TAAGC-T
gnomAD v4:
14-81871347-TAAGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.81871352_81871355del , CM000676.2:g.81871352_81871355del
GRCh38
NC_000014.8:g.82337696_82337699del , CM000676.1:g.82337696_82337699del
GRCh37
NC_000014.7:g.81407449_81407452del
NCBI36
Search 100 bp 5'
Search 100 bp 3'