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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:
CA2302643232
Gene:
Linked Data
dbSNP Id:
rs2040895609
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50317016_50317020dup , CM000680.2:g.50317016_50317020dup
GRCh38
NC_000018.9:g.47843386_47843390dup , CM000680.1:g.47843386_47843390dup
GRCh37
NC_000018.8:g.46097384_46097388dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'