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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:
CA742240632
Gene:
Linked Data
dbSNP Id:
rs1366361027
MyVariant Identifiers:
chr20:g.23642399_23642411del (hg19)
chr20:g.23661762_23661774del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23661765_23661777del , CM000682.2:g.23661765_23661777del
GRCh38
NC_000020.10:g.23642402_23642414del , CM000682.1:g.23642402_23642414del
GRCh37
NC_000020.9:g.23590402_23590414del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754712.1:n.280+115_280+127del
Search 100 bp 5'
Search 100 bp 3'