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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:
CA116430956
Gene:
Linked Data
dbSNP Id:
rs112890115
gnomAD v2:
5-29023373-GCT-G
gnomAD v3:
5-29023266-GCT-G
gnomAD v4:
5-29023266-GCT-G
MyVariant Identifiers:
chr5:g.29023374_29023375del (hg19)
chr5:g.29023267_29023268del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.29023271_29023272del , CM000667.2:g.29023271_29023272del
GRCh38
NC_000005.9:g.29023378_29023379del , CM000667.1:g.29023378_29023379del
GRCh37
NC_000005.8:g.29059135_29059136del
NCBI36
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Search 100 bp 3'