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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:
CA521030986
Gene:
Linked Data
dbSNP Id:
rs1381457773
rs2100394328
gnomAD v2:
1-17633628-AT-A
gnomAD v3:
1-17307133-AT-A
gnomAD v4:
1-17307133-AT-A
MyVariant Identifiers:
chr1:g.17633629del (hg19)
chr1:g.17307134del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17307134del , CM000663.2:g.17307134del
GRCh38
NC_000001.10:g.17633629del , CM000663.1:g.17633629del
GRCh37
NC_000001.9:g.17506216del
NCBI36
NG_023261.2:g.3946del
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