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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:
CA2712228521
Gene:
Linked Data
dbSNP Id:
rs2127899802
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.79403937dup , CM000668.2:g.79403937dup
GRCh38
NC_000006.11:g.80113654dup , CM000668.1:g.80113654dup
GRCh37
NC_000006.10:g.80170373dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'