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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:
CA2728805585
Gene:
Linked Data
dbSNP Id:
rs2138890994
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.92929468_92929473dup , CM000675.2:g.92929468_92929473dup
GRCh38
NC_000013.10:g.93581721_93581726dup , CM000675.1:g.93581721_93581726dup
GRCh37
NC_000013.9:g.92379722_92379727dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'