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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:
CA849634591
Gene:
Linked Data
dbSNP Id:
rs1461349397
MyVariant Identifiers:
chr8:g.19987759del (hg19)
chr8:g.20130248del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20130248del , CM000670.2:g.20130248del
GRCh38
NC_000008.10:g.19987759del , CM000670.1:g.19987759del
GRCh37
NC_000008.9:g.20032039del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949563.1:n.3408+329del
XR_949563.2:n.3400+329del
Search 100 bp 5'
Search 100 bp 3'