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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:
CA1015471096
Gene:
Linked Data
dbSNP Id:
rs2057532044
gnomAD v3:
20-12101817-AT-A
gnomAD v4:
20-12101817-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.12101818del , CM000682.2:g.12101818del
GRCh38
NC_000020.10:g.12082466del , CM000682.1:g.12082466del
GRCh37
NC_000020.9:g.12030466del
NCBI36
Search 100 bp 5'
Search 100 bp 3'