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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:
CA783221329
Gene:
Linked Data
dbSNP Id:
rs1213318330
gnomAD v3:
19-1102022-C-CTG
gnomAD v4:
19-1102022-C-CTG
MyVariant Identifiers:
chr19:g.1102021_1102022insTG (hg19)
chr19:g.1102022_1102023insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1102023_1102024dup , CM000681.2:g.1102023_1102024dup
GRCh38
NC_000019.9:g.1102022_1102023dup , CM000681.1:g.1102022_1102023dup
GRCh37
NC_000019.8:g.1053022_1053023dup
NCBI36
NG_050621.1:g.3098_3099dup
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