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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:
CA124946800
Gene:
Linked Data
dbSNP Id:
rs751774814
rs2126623256
gnomAD v2:
5-110467372-TAAAA-T
gnomAD v3:
5-111131674-TAAAA-T
gnomAD v4:
5-111131674-TAAAA-T
MyVariant Identifiers:
chr5:g.110467373_110467376del (hg19)
chr5:g.111131675_111131678del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131677_111131680del , CM000667.2:g.111131677_111131680del
GRCh38
NC_000005.9:g.110467375_110467378del , CM000667.1:g.110467375_110467378del
GRCh37
NC_000005.8:g.110495274_110495277del
NCBI36
NG_008979.1:g.44506_44509del
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