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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:
CA982817133
Gene:
Linked Data
gnomAD v3:
17-29376345-CTGAG-C
gnomAD v4:
17-29376345-CTGAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.29376347_29376350del , CM000679.2:g.29376347_29376350del
GRCh38
NC_000017.10:g.27703365_27703368del , CM000679.1:g.27703365_27703368del
GRCh37
NC_000017.9:g.24727491_24727494del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011525588.1:c.1008-6044_1008-6041del
XP_011523890.1:n.1008-6044_1008-6041del
Search 100 bp 5'
Search 100 bp 3'