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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:
CA801872290
Gene:
Linked Data
dbSNP Id:
rs1466513639
gnomAD v3:
5-111131783-AAT-A
gnomAD v4:
5-111131783-AAT-A
MyVariant Identifiers:
chr5:g.110467482_110467483del (hg19)
chr5:g.111131784_111131785del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131786_111131787del , CM000667.2:g.111131786_111131787del
GRCh38
NC_000005.9:g.110467484_110467485del , CM000667.1:g.110467484_110467485del
GRCh37
NC_000005.8:g.110495383_110495384del
NCBI36
NG_008979.1:g.44615_44616del
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