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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:
CA2249573171
Gene:
Linked Data
dbSNP Id:
rs1913250261
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.15393525del , CM000679.2:g.15393525del
GRCh38
NC_000017.10:g.15296842del , CM000679.1:g.15296842del
GRCh37
NC_000017.9:g.15237567del
NCBI36
Search 100 bp 5'
Search 100 bp 3'