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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:
CA317824433
Gene:
Linked Data
dbSNP Id:
rs530145952
gnomAD v3:
21-14472540-AATT-A
gnomAD v4:
21-14472540-AATT-A
MyVariant Identifiers:
chr21:g.15844862_15844864del (hg19)
chr21:g.14472541_14472543del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472547_14472549del , CM000683.2:g.14472547_14472549del
GRCh38
NC_000021.8:g.15844868_15844870del , CM000683.1:g.15844868_15844870del
GRCh37
NC_000021.7:g.14766739_14766741del
NCBI36
Search 100 bp 5'
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