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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:
CA1839251872
Gene:
Linked Data
dbSNP Id:
rs1818113527
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.22134039_22134046del , CM000671.2:g.22134039_22134046del
GRCh38
NC_000009.11:g.22134038_22134045del , CM000671.1:g.22134038_22134045del
GRCh37
NC_000009.10:g.22124038_22124045del
NCBI36
Search 100 bp 5'
Search 100 bp 3'