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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:
CA202825343
Gene:
Linked Data
dbSNP Id:
rs920521130
MyVariant Identifiers:
chr10:g.9053134del (hg19)
chr10:g.9011171del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.9011171del , CM000672.2:g.9011171del
GRCh38
NC_000010.10:g.9053134del , CM000672.1:g.9053134del
GRCh37
NC_000010.9:g.9093140del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930641.1:n.32+54192del
Search 100 bp 5'
Search 100 bp 3'