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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:
CA2497380040
Gene:
Linked Data
dbSNP Id:
rs1884674635
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92314614_92314622del , CM000676.2:g.92314614_92314622del
GRCh38
NC_000014.8:g.92780958_92780966del , CM000676.1:g.92780958_92780966del
GRCh37
NC_000014.7:g.91850711_91850719del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944153.1:n.132-632_132-624del
Search 100 bp 5'
Search 100 bp 3'