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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:
CA2211824186
Gene:
Linked Data
dbSNP Id:
rs2057516507
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.20089118_20089121del , CM000678.2:g.20089118_20089121del
GRCh38
NC_000016.9:g.20100440_20100443del , CM000678.1:g.20100440_20100443del
GRCh37
NC_000016.8:g.20007941_20007944del
NCBI36
Search 100 bp 5'
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