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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:
CA810619088
Gene:
Linked Data
dbSNP Id:
rs1209522828
MyVariant Identifiers:
chr5:g.40401280_40401282del (hg19)
chr5:g.40401178_40401180del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401180_40401182del , CM000667.2:g.40401180_40401182del
GRCh38
NC_000005.9:g.40401282_40401284del , CM000667.1:g.40401282_40401284del
GRCh37
NC_000005.8:g.40437039_40437041del
NCBI36
Search 100 bp 5'
Search 100 bp 3'