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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:
CA1266788879
Gene:
Linked Data
dbSNP Id:
rs1690267380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85478474_85478476del , CM000664.2:g.85478474_85478476del
GRCh38
NC_000002.11:g.85705597_85705599del , CM000664.1:g.85705597_85705599del
GRCh37
NC_000002.10:g.85559108_85559110del
NCBI36
Search 100 bp 5'
Search 100 bp 3'