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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:
CA923759444
Gene:
Linked Data
dbSNP Id:
rs758327324
gnomAD v3:
Y-20455346-G-GT
gnomAD v4:
Y-20455346-G-GT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20455361dup , CM000686.2:g.20455361dup
GRCh38
NC_000024.9:g.22617247dup , CM000686.1:g.22617247dup
GRCh37
NC_000024.8:g.21026635dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'