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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:
CA1960116449
Gene:
Linked Data
dbSNP Id:
rs1860918345
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.27735978del , CM000673.2:g.27735978del
GRCh38
NC_000011.9:g.27757525del , CM000673.1:g.27757525del
GRCh37
NC_000011.8:g.27714101del
NCBI36
Search 100 bp 5'
Search 100 bp 3'