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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:
CA1118175201
Gene:
Linked Data
dbSNP Id:
rs1812436005
gnomAD v3:
8-115381742-TCTAA-T
gnomAD v4:
8-115381742-TCTAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.115381748_115381751del , CM000670.2:g.115381748_115381751del
GRCh38
NC_000008.10:g.116393977_116393980del , CM000670.1:g.116393977_116393980del
GRCh37
NC_000008.9:g.116463153_116463156del
NCBI36
Search 100 bp 5'
Search 100 bp 3'