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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:
CA995939368
Gene:
Linked Data
dbSNP Id:
rs1968902246
gnomAD v3:
19-40990581-TG-T
gnomAD v4:
19-40990581-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40990585del , CM000681.2:g.40990585del
GRCh38
NC_000019.9:g.41496490del , CM000681.1:g.41496490del
GRCh37
NC_000019.8:g.46188330del
NCBI36
NG_007929.1:g.4287del
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