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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:
CA561501280
Gene:
Linked Data
dbSNP Id:
rs35923568
gnomAD v2:
5-99342003-T-TAAAAA
gnomAD v3:
5-100006299-T-TAAAAA
gnomAD v4:
5-100006299-T-TAAAAA
MyVariant Identifiers:
chr5:g.99342005_99342006insAAAAA (hg19)
chr5:g.99342003_99342004insAAAAA (hg19)
chr5:g.100006301_100006302insAAAAA (hg38)
chr5:g.100006299_100006300insAAAAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006316_100006320dup , CM000667.2:g.100006316_100006320dup
GRCh38
NC_000005.9:g.99342020_99342024dup , CM000667.1:g.99342020_99342024dup
GRCh37
NC_000005.8:g.99369919_99369923dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'