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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:
CA746501984
Gene:
Linked Data
dbSNP Id:
rs1168943268
gnomAD v3:
20-6423494-AT-A
gnomAD v4:
20-6423494-AT-A
MyVariant Identifiers:
chr20:g.6404142del (hg19)
chr20:g.6423495del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6423500del , CM000682.2:g.6423500del
GRCh38
NC_000020.10:g.6404147del , CM000682.1:g.6404147del
GRCh37
NC_000020.9:g.6352147del
NCBI36
Search 100 bp 5'
Search 100 bp 3'