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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:
CA957385681
Gene:
Linked Data
dbSNP Id:
rs1566242844
gnomAD v3:
13-70675413-ATATATATATATATTTTATATATATATTT-A
gnomAD v4:
13-70675413-ATATATATATATATTTTATATATATATTT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675427_70675454del , CM000675.2:g.70675427_70675454del
GRCh38
NC_000013.10:g.71249559_71249586del , CM000675.1:g.71249559_71249586del
GRCh37
NC_000013.9:g.70147560_70147587del
NCBI36
Search 100 bp 5'
Search 100 bp 3'