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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:
CA124946764
Gene:
Linked Data
dbSNP Id:
rs1006922201
MyVariant Identifiers:
chr5:g.110467354_110467356del (hg19)
chr5:g.111131656_111131658del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131658_111131660del , CM000667.2:g.111131658_111131660del
GRCh38
NC_000005.9:g.110467356_110467358del , CM000667.1:g.110467356_110467358del
GRCh37
NC_000005.8:g.110495255_110495257del
NCBI36
NG_008979.1:g.44487_44489del
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