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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:
CA800833853
Gene:
Linked Data
dbSNP Id:
rs1185196182
MyVariant Identifiers:
chr5:g.99948844_99948847del (hg19)
chr5:g.100613140_100613143del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100613150_100613153del , CM000667.2:g.100613150_100613153del
GRCh38
NC_000005.9:g.99948854_99948857del , CM000667.1:g.99948854_99948857del
GRCh37
NC_000005.8:g.99976753_99976756del
NCBI36
Search 100 bp 5'
Search 100 bp 3'