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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:
CA1020625434
Gene:
Linked Data
dbSNP Id:
rs1987465947
gnomAD v3:
21-15440853-A-C
gnomAD v4:
21-15440853-A-C
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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.15440853A>C , CM000683.2:g.15440853A>C
GRCh38
NC_000021.8:g.16813172A>C , CM000683.1:g.16813172A>C
GRCh37
NC_000021.7:g.15735043A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_937593.1:n.552+373T>G
XR_001754965.2:n.468+3171T>G
XR_001754970.2:n.468+3171T>G
XR_001754971.2:n.468+3171T>G
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