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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:
CA2302010022
Gene:
Linked Data
dbSNP Id:
rs2070490413
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001545dup , CM000680.2:g.49001545dup
GRCh38
NC_000018.9:g.46527915dup , CM000680.1:g.46527915dup
GRCh37
NC_000018.8:g.44781913dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'