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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:
CA637004817
Gene:
Linked Data
dbSNP Id:
rs1425340879
gnomAD v2:
21-15844877-AAC-A
gnomAD v3:
21-14472556-AAC-A
gnomAD v4:
21-14472556-AAC-A
MyVariant Identifiers:
chr21:g.15844878_15844879del (hg19)
chr21:g.14472557_14472558del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472557_14472558del , CM000683.2:g.14472557_14472558del
GRCh38
NC_000021.8:g.15844878_15844879del , CM000683.1:g.15844878_15844879del
GRCh37
NC_000021.7:g.14766749_14766750del
NCBI36
Search 100 bp 5'
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