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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:
CA321172202
Gene:
Linked Data
dbSNP Id:
rs549300833
gnomAD v3:
21-43172935-C-T
gnomAD v4:
21-43172935-C-T
MyVariant Identifiers:
chr21:g.43172935C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43172935C>T , CM000683.2:g.43172935C>T
GRCh38
NG_009823.1:g.8905C>T
Search 100 bp 5'
Search 100 bp 3'