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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:
CA2698765784
Gene:
Linked Data
dbSNP Id:
rs113844523
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.22345842_22345843dup , CM000664.2:g.22345842_22345843dup
GRCh38
NC_000002.11:g.22568714_22568715dup , CM000664.1:g.22568714_22568715dup
GRCh37
NC_000002.10:g.22422219_22422220dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'