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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:
CA66944845
Gene:
Linked Data
dbSNP Id:
rs200181496
MyVariant Identifiers:
chr2:g.233379940_233379942del (hg19)
chr2:g.232515230_232515232del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.232515231_232515233del , CM000664.2:g.232515231_232515233del
GRCh38
NC_000002.11:g.233379941_233379943del , CM000664.1:g.233379941_233379943del
GRCh37
NC_000002.10:g.233088185_233088187del
NCBI36
Search 100 bp 5'
Search 100 bp 3'