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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:
CA1133113957
Gene:
Linked Data
dbSNP Id:
rs1855670387
gnomAD v3:
X-51487073-GTAAA-G
gnomAD v4:
X-51487073-GTAAA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.51487076_51487079del , CM000685.2:g.51487076_51487079del
GRCh38
NC_000023.10:g.51229928_51229931del , CM000685.1:g.51229928_51229931del
GRCh37
NC_000023.9:g.51246668_51246671del
NCBI36
Search 100 bp 5'
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