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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:
CA2708902141
Gene:
Linked Data
dbSNP Id:
rs2111896057
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414832_40414834dup , CM000667.2:g.40414832_40414834dup
GRCh38
NC_000005.9:g.40414934_40414936dup , CM000667.1:g.40414934_40414936dup
GRCh37
NC_000005.8:g.40450691_40450693dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'