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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:
CA2002743409
Gene:
Linked Data
dbSNP Id:
rs1941041312
gnomAD v3:
11-116793075-GAC-G
gnomAD v4:
11-116793075-GAC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116793080_116793081del , CM000673.2:g.116793080_116793081del
GRCh38
NC_000011.9:g.116663796_116663797del , CM000673.1:g.116663796_116663797del
GRCh37
NC_000011.8:g.116169006_116169007del
NCBI36
NG_015894.1:g.4344_4345del
NG_015894.2:g.4344_4345del
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