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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:
CA2737021887
Gene:
Linked Data
dbSNP Id:
rs2145699648
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.43665884_43665885del , CM000682.2:g.43665884_43665885del
GRCh38
NC_000020.10:g.42294524_42294525del , CM000682.1:g.42294524_42294525del
GRCh37
NC_000020.9:g.41727938_41727939del
NCBI36
Search 100 bp 5'
Search 100 bp 3'