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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:
CA2735522442
Gene:
Linked Data
dbSNP Id:
rs2145309199
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77153793_77153795del , CM000680.2:g.77153793_77153795del
GRCh38
NC_000018.9:g.74865749_74865751del , CM000680.1:g.74865749_74865751del
GRCh37
NC_000018.8:g.72994737_72994739del
NCBI36
Search 100 bp 5'
Search 100 bp 3'