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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:
CA1091580988
Gene:
Linked Data
dbSNP Id:
rs1779328052
gnomAD v3:
6-88266175-G-GTT
gnomAD v4:
6-88266175-G-GTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.88266177_88266178dup , CM000668.2:g.88266177_88266178dup
GRCh38
NC_000006.11:g.88975896_88975897dup , CM000668.1:g.88975896_88975897dup
GRCh37
NC_000006.10:g.89032615_89032616dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'