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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:
CA983693269
Gene:
Linked Data
dbSNP Id:
rs2036984727
gnomAD v3:
17-40618798-AAACCCGGTTTTGAAAAGAGAAG-A
gnomAD v4:
17-40618798-AAACCCGGTTTTGAAAAGAGAAG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618801_40618822del , CM000679.2:g.40618801_40618822del
GRCh38
NC_000017.10:g.38775053_38775074del , CM000679.1:g.38775053_38775074del
GRCh37
NC_000017.9:g.36028579_36028600del
NCBI36
Search 100 bp 5'
Search 100 bp 3'