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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:
CA566352190
Gene:
Linked Data
dbSNP Id:
rs150884223
gnomAD v2:
6-31542112-T-TTG
gnomAD v3:
6-31574335-T-TTG
gnomAD v4:
6-31574335-T-TTG
MyVariant Identifiers:
chr6:g.31542114_31542115insTG (hg19)
chr6:g.31574337_31574338insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31574347_31574348dup , CM000668.2:g.31574347_31574348dup
GRCh38
NC_000006.11:g.31542124_31542125dup , CM000668.1:g.31542124_31542125dup
GRCh37
NC_000006.10:g.31650103_31650104dup
NCBI36
NG_007462.1:g.3775_3776dup
NG_012010.1:g.7249_7250dup
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