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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:
CA1775343081
Gene:
Linked Data
dbSNP Id:
rs1802340322
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.33808175_33808178del , CM000670.2:g.33808175_33808178del
GRCh38
NC_000008.10:g.33665693_33665696del , CM000670.1:g.33665693_33665696del
GRCh37
NC_000008.9:g.33785235_33785238del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949659.1:n.240+11739_240+11742del
XR_002956701.1:n.240+11739_240+11742del
Search 100 bp 5'
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