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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:
CA955377229
Gene:
Linked Data
dbSNP Id:
rs1961822227
gnomAD v3:
13-42382513-CTTAG-C
gnomAD v4:
13-42382513-CTTAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.42382516_42382519del , CM000675.2:g.42382516_42382519del
GRCh38
NC_000013.10:g.42956652_42956655del , CM000675.1:g.42956652_42956655del
GRCh37
NC_000013.9:g.41854652_41854655del
NCBI36
Search 100 bp 5'
Search 100 bp 3'