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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:
CA936767975
Gene:
Linked Data
dbSNP Id:
rs1856335696
gnomAD v3:
11-34438527-CTT-C
gnomAD v4:
11-34438527-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.34438531_34438532del , CM000673.2:g.34438531_34438532del
GRCh38
NC_000011.9:g.34460078_34460079del , CM000673.1:g.34460078_34460079del
GRCh37
NC_000011.8:g.34416654_34416655del
NCBI36
NG_013339.1:g.4607_4608del
NG_013339.2:g.4607_4608del
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