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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:
CA1659515998
Gene:
Linked Data
dbSNP Id:
rs1774157413
gnomAD v3:
6-121460236-AACTACTCTACTCTCAGCT-A
gnomAD v4:
6-121460236-AACTACTCTACTCTCAGCT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.121460238_121460255del , CM000668.2:g.121460238_121460255del
GRCh38
NC_000006.11:g.121781384_121781401del , CM000668.1:g.121781384_121781401del
GRCh37
NC_000006.10:g.121823083_121823100del
NCBI36
Search 100 bp 5'
Search 100 bp 3'