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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:
CA747163443
Gene:
Linked Data
dbSNP Id:
rs1366617937
MyVariant Identifiers:
chr21:g.15845175del (hg19)
chr21:g.14472854del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472854del , CM000683.2:g.14472854del
GRCh38
NC_000021.8:g.15845175del , CM000683.1:g.15845175del
GRCh37
NC_000021.7:g.14767046del
NCBI36
Search 100 bp 5'
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