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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:
CA561885879
Gene:
Linked Data
dbSNP Id:
rs1307160541
rs2126623402
gnomAD v2:
5-110467609-A-AT
gnomAD v3:
5-111131911-A-AT
gnomAD v4:
5-111131911-A-AT
MyVariant Identifiers:
chr5:g.110467609_110467610insT (hg19)
chr5:g.111131911_111131912insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131917dup , CM000667.2:g.111131917dup
GRCh38
NC_000005.9:g.110467615dup , CM000667.1:g.110467615dup
GRCh37
NC_000005.8:g.110495514dup
NCBI36
NG_008979.1:g.44746dup
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