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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:
CA1068551825
Gene:
Linked Data
dbSNP Id:
rs1726633163
gnomAD v3:
4-137233578-TTG-T
gnomAD v4:
4-137233578-TTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.137233584_137233585del , CM000666.2:g.137233584_137233585del
GRCh38
NC_000004.11:g.138154738_138154739del , CM000666.1:g.138154738_138154739del
GRCh37
NC_000004.10:g.138374188_138374189del
NCBI36
Search 100 bp 5'
Search 100 bp 3'