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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:
CA913222992
Gene:
Linked Data
dbSNP Id:
rs1557771511
gnomAD v2:
1-20455293-TGTATTTGGAG-T
gnomAD v3:
1-20128800-TGTATTTGGAG-T
gnomAD v4:
1-20128800-TGTATTTGGAG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20128804_20128813del , CM000663.2:g.20128804_20128813del
GRCh38
NC_000001.10:g.20455297_20455306del , CM000663.1:g.20455297_20455306del
GRCh37
NC_000001.9:g.20327884_20327893del
NCBI36
Search 100 bp 5'
Search 100 bp 3'