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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:
CA533395002
Gene:
Linked Data
dbSNP Id:
rs1444981127
gnomAD v2:
2-68579858-CT-C
gnomAD v3:
2-68352726-CT-C
gnomAD v4:
2-68352726-CT-C
MyVariant Identifiers:
chr2:g.68579859del (hg19)
chr2:g.68352727del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.68352728del , CM000664.2:g.68352728del
GRCh38
NC_000002.11:g.68579860del , CM000664.1:g.68579860del
GRCh37
NC_000002.10:g.68433364del
NCBI36
Search 100 bp 5'
Search 100 bp 3'