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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:
CA924342530
Gene:
Linked Data
dbSNP Id:
rs1832984231
gnomAD v3:
10-3820174-CT-C
gnomAD v4:
10-3820174-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.3820175del , CM000672.2:g.3820175del
GRCh38
NC_000010.10:g.3862367del , CM000672.1:g.3862367del
GRCh37
NC_000010.9:g.3852367del
NCBI36
Search 100 bp 5'
Search 100 bp 3'