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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:
CA1011892628
Gene:
Linked Data
dbSNP Id:
rs1703724101
gnomAD v3:
1-211379705-GCTAGGAT-G
gnomAD v4:
1-211379705-GCTAGGAT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379708_211379714del , CM000663.2:g.211379708_211379714del
GRCh38
NC_000001.10:g.211553050_211553056del , CM000663.1:g.211553050_211553056del
GRCh37
NC_000001.9:g.209619673_209619679del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738446.1:n.291+2483_291+2489del
Search 100 bp 5'
Search 100 bp 3'