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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:
CA28974547
Gene:
Linked Data
dbSNP Id:
rs530019773
gnomAD v2:
1-114303668-GA-G
gnomAD v3:
1-113761046-GA-G
gnomAD v4:
1-113761046-GA-G
MyVariant Identifiers:
chr1:g.114303669del (hg19)
chr1:g.113761047del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.113761047del , CM000663.2:g.113761047del
GRCh38
NC_000001.10:g.114303669del , CM000663.1:g.114303669del
GRCh37
NC_000001.9:g.114105192del
NCBI36
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