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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:
CA963353991
Gene:
Linked Data
dbSNP Id:
rs2039540213
gnomAD v3:
14-54839957-G-GT
gnomAD v4:
14-54839957-G-GT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54839958dup , CM000676.2:g.54839958dup
GRCh38
NC_000014.8:g.55306676dup , CM000676.1:g.55306676dup
GRCh37
NC_000014.7:g.54376426dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'