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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:
CA82548123
Gene:
Linked Data
dbSNP Id:
rs571011510
gnomAD v2:
3-121888828-AG-A
gnomAD v3:
3-122169981-AG-A
gnomAD v4:
3-122169981-AG-A
MyVariant Identifiers:
chr3:g.121888829del (hg19)
chr3:g.122169982del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.122169983del , CM000665.2:g.122169983del
GRCh38
NC_000003.11:g.121888830del , CM000665.1:g.121888830del
GRCh37
NC_000003.10:g.123371520del
NCBI36
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