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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:
CA1135130608
Gene:
Linked Data
dbSNP Id:
rs1925892388
gnomAD v3:
X-87935379-CCTT-C
gnomAD v4:
X-87935379-CCTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.87935383_87935385del , CM000685.2:g.87935383_87935385del
GRCh38
NC_000023.10:g.87190383_87190385del , CM000685.1:g.87190383_87190385del
GRCh37
NC_000023.9:g.87077039_87077041del
NCBI36
Search 100 bp 5'
Search 100 bp 3'