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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:
CA917715055
Gene:
Linked Data
dbSNP Id:
rs1554136025
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32602576del , CM000668.2:g.32602576del
GRCh38
NC_000006.11:g.32570353del , CM000668.1:g.32570353del
GRCh37
NC_000006.10:g.32678331del
NCBI36
Search 100 bp 5'
Search 100 bp 3'