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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:
CA1087614489
Gene:
Linked Data
dbSNP Id:
rs1782636715
gnomAD v3:
6-32658541-CAG-C
gnomAD v4:
6-32658541-CAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32658545_32658546del , CM000668.2:g.32658545_32658546del
GRCh38
NC_000006.11:g.32626322_32626323del , CM000668.1:g.32626322_32626323del
GRCh37
NC_000006.10:g.32734300_32734301del
NCBI36
Search 100 bp 5'
Search 100 bp 3'