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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:
CA785425060
Gene:
Linked Data
dbSNP Id:
rs1173504113
gnomAD v3:
4-111690593-AT-A
gnomAD v4:
4-111690593-AT-A
MyVariant Identifiers:
chr4:g.112611750del (hg19)
chr4:g.111690594del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.111690597del , CM000666.2:g.111690597del
GRCh38
NC_000004.11:g.112611753del , CM000666.1:g.112611753del
GRCh37
NC_000004.10:g.112831202del
NCBI36
Search 100 bp 5'
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