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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:
CA602119347
Gene:
Linked Data
dbSNP Id:
rs1229340497
gnomAD v2:
11-116313409-CTA-C
gnomAD v3:
11-116442692-CTA-C
gnomAD v4:
11-116442692-CTA-C
MyVariant Identifiers:
chr11:g.116313410_116313411del (hg19)
chr11:g.116442693_116442694del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442694_116442695del , CM000673.2:g.116442694_116442695del
GRCh38
NC_000011.9:g.116313411_116313412del , CM000673.1:g.116313411_116313412del
GRCh37
NC_000011.8:g.115818621_115818622del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001748403.1:n.349+31183_349+31184del
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Search 100 bp 3'