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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:
CA1044463603
Gene:
Linked Data
dbSNP Id:
rs1708183589
gnomAD v3:
3-3190095-AGTTGT-A
gnomAD v4:
3-3190095-AGTTGT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.3190096_3190100del , CM000665.2:g.3190096_3190100del
GRCh38
NC_000003.11:g.3231780_3231784del , CM000665.1:g.3231780_3231784del
GRCh37
NC_000003.10:g.3206780_3206784del
NCBI36
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