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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:
CA2590348481
Gene:
Linked Data
dbSNP Id:
rs2133244707
gnomAD v3:
11-636313-AGT-A
gnomAD v4:
11-636313-AGT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.636316_636317del , CM000673.2:g.636316_636317del
GRCh38
NC_000011.9:g.636316_636317del , CM000673.1:g.636316_636317del
GRCh37
NC_000011.8:g.626316_626317del
NCBI36
NG_021241.1:g.4012_4013del
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