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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:
CA890059696
Gene:
Linked Data
dbSNP Id:
rs1375306566
gnomAD v3:
1-159749996-CAG-C
gnomAD v4:
1-159749996-CAG-C
MyVariant Identifiers:
chr1:g.159719787_159719788del (hg19)
chr1:g.159749997_159749998del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159749997_159749998del , CM000663.2:g.159749997_159749998del
GRCh38
NC_000001.10:g.159719787_159719788del , CM000663.1:g.159719787_159719788del
GRCh37
NC_000001.9:g.157986411_157986412del
NCBI36
Search 100 bp 5'
Search 100 bp 3'