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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:
CA1010506014
Gene:
Linked Data
dbSNP Id:
rs1658109684
gnomAD v3:
1-191590266-AAT-A
gnomAD v4:
1-191590266-AAT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.191590269_191590270del , CM000663.2:g.191590269_191590270del
GRCh38
NC_000001.10:g.191559399_191559400del , CM000663.1:g.191559399_191559400del
GRCh37
NC_000001.9:g.189826022_189826023del
NCBI36
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