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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:
CA2366180153
Gene:
Linked Data
dbSNP Id:
rs1988120236
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45351957_45351958dup , CM000682.2:g.45351957_45351958dup
GRCh38
NC_000020.10:g.43980597_43980598dup , CM000682.1:g.43980597_43980598dup
GRCh37
NC_000020.9:g.43414011_43414012dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'