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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:
CA917290259
Gene:
Linked Data
dbSNP Id:
rs1560764675
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120041295del , CM000666.2:g.120041295del
GRCh38
NC_000004.11:g.120962450del , CM000666.1:g.120962450del
GRCh37
NC_000004.10:g.121181898del
NCBI36
Search 100 bp 5'
Search 100 bp 3'