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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:
CA924304680
Gene:
Linked Data
dbSNP Id:
rs1831781454
gnomAD v3:
10-3366786-C-CTT
gnomAD v4:
10-3366786-C-CTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.3366787_3366788dup , CM000672.2:g.3366787_3366788dup
GRCh38
NC_000010.10:g.3408979_3408980dup , CM000672.1:g.3408979_3408980dup
GRCh37
NC_000010.9:g.3398979_3398980dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_131187.1:n.162+47931_162+47932dup
Search 100 bp 5'
Search 100 bp 3'