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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:
CA785425059
Gene:
Linked Data
dbSNP Id:
rs1173504113
gnomAD v3:
4-111690593-A-ATT
gnomAD v4:
4-111690593-A-ATT
MyVariant Identifiers:
chr4:g.112611749_112611750insTT (hg19)
chr4:g.111690593_111690594insTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.111690596_111690597dup , CM000666.2:g.111690596_111690597dup
GRCh38
NC_000004.11:g.112611752_112611753dup , CM000666.1:g.112611752_112611753dup
GRCh37
NC_000004.10:g.112831201_112831202dup
NCBI36
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