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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:
CA1243684347
Gene:
Linked Data
dbSNP Id:
rs1671833380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.34447888_34447891del , CM000664.2:g.34447888_34447891del
GRCh38
NC_000002.11:g.34672955_34672958del , CM000664.1:g.34672955_34672958del
GRCh37
NC_000002.10:g.34526459_34526462del
NCBI36
Search 100 bp 5'
Search 100 bp 3'