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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:
CA2711424145
Gene:
Linked Data
dbSNP Id:
rs2150345116
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33058534del , CM000668.2:g.33058534del
GRCh38
NC_000006.11:g.33026311del , CM000668.1:g.33026311del
GRCh37
NC_000006.10:g.33134289del
NCBI36
Search 100 bp 5'
Search 100 bp 3'