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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:
CA988930046
Gene:
Linked Data
gnomAD v3:
18-31607384-T-TTTGTCTCTCTCTCTAGTCATCTTCTCCTC
gnomAD v4:
18-31607384-T-TTTGTCTCTCTCTCTAGTCATCTTCTCCTC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31607386_31607414dup , CM000680.2:g.31607386_31607414dup
GRCh38
NC_000018.9:g.29187349_29187377dup , CM000680.1:g.29187349_29187377dup
GRCh37
NC_000018.8:g.27441347_27441375dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'