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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:
CA917128412
Gene:
Linked Data
dbSNP Id:
rs1560561667
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124151del , CM000666.2:g.10124151del
GRCh38
NC_000004.11:g.10125775del , CM000666.1:g.10125775del
GRCh37
NC_000004.10:g.9734873del
NCBI36
Search 100 bp 5'
Search 100 bp 3'