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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:
CA561501279
Gene:
Linked Data
dbSNP Id:
rs35923568
gnomAD v2:
5-99342003-T-TAAA
gnomAD v3:
5-100006299-T-TAAA
gnomAD v4:
5-100006299-T-TAAA
MyVariant Identifiers:
chr5:g.99342005_99342006insAAA (hg19)
chr5:g.99342003_99342004insAAA (hg19)
chr5:g.100006301_100006302insAAA (hg38)
chr5:g.100006299_100006300insAAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006318_100006320dup , CM000667.2:g.100006318_100006320dup
GRCh38
NC_000005.9:g.99342022_99342024dup , CM000667.1:g.99342022_99342024dup
GRCh37
NC_000005.8:g.99369921_99369923dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'