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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:
CA1102732586
Gene:
Linked Data
dbSNP Id:
rs1788209379
gnomAD v3:
7-69147018-TTAGTTCTGGTTTA-T
gnomAD v4:
7-69147018-TTAGTTCTGGTTTA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147025_69147037del , CM000669.2:g.69147025_69147037del
GRCh38
NC_000007.13:g.68612012_68612024del , CM000669.1:g.68612012_68612024del
GRCh37
NC_000007.12:g.68249948_68249960del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-905_88-893del
Search 100 bp 5'
Search 100 bp 3'