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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:
CA1028227769
Gene:
Linked Data
dbSNP Id:
rs1662537211
gnomAD v3:
2-20973338-T-TA
gnomAD v4:
2-20973338-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20973342dup , CM000664.2:g.20973342dup
GRCh38
NC_000002.11:g.21196214dup , CM000664.1:g.21196214dup
GRCh37
NC_000002.10:g.21049711dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'