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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:
CA2211824168
Gene:
Linked Data
dbSNP Id:
rs2057516434
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.20089061del , CM000678.2:g.20089061del
GRCh38
NC_000016.9:g.20100383del , CM000678.1:g.20100383del
GRCh37
NC_000016.8:g.20007884del
NCBI36
Search 100 bp 5'
Search 100 bp 3'