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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:
CA1108283965
Gene:
Linked Data
dbSNP Id:
rs2076744226
gnomAD v3:
7-145194987-A-AACAGACAGGAATAGTAGAG
gnomAD v4:
7-145194987-A-AACAGACAGGAATAGTAGAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.145194989_145195007dup , CM000669.2:g.145194989_145195007dup
GRCh38
NC_000007.13:g.144892082_144892100dup , CM000669.1:g.144892082_144892100dup
GRCh37
NC_000007.12:g.144523015_144523033dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'