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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:
CA785939795
Gene:
Linked Data
dbSNP Id:
rs1176476648
gnomAD v3:
4-117158757-TAAG-T
gnomAD v4:
4-117158757-TAAG-T
MyVariant Identifiers:
chr4:g.118079914_118079916del (hg19)
chr4:g.117158758_117158760del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.117158759_117158761del , CM000666.2:g.117158759_117158761del
GRCh38
NC_000004.11:g.118079915_118079917del , CM000666.1:g.118079915_118079917del
GRCh37
NC_000004.10:g.118299363_118299365del
NCBI36
Search 100 bp 5'
Search 100 bp 3'