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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:
CA916563113
Gene:
Linked Data
dbSNP Id:
rs558533308
gnomAD v3:
2-70872940-CTGTG-C
gnomAD v4:
2-70872940-CTGTG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.70872952_70872955del , CM000664.2:g.70872952_70872955del
GRCh38
NC_000002.11:g.71100082_71100085del , CM000664.1:g.71100082_71100085del
GRCh37
NC_000002.10:g.70953590_70953593del
NCBI36
Search 100 bp 5'
Search 100 bp 3'