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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:
CA1059229666
Gene:
Linked Data
dbSNP Id:
rs1714441810
gnomAD v3:
4-10124253-C-CAGCA
gnomAD v4:
4-10124253-C-CAGCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124254_10124257dup , CM000666.2:g.10124254_10124257dup
GRCh38
NC_000004.11:g.10125878_10125881dup , CM000666.1:g.10125878_10125881dup
GRCh37
NC_000004.10:g.9734976_9734979dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'