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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:
CA1335965485
Gene:
Linked Data
dbSNP Id:
rs1691320148
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233917211dup , CM000664.2:g.233917211dup
GRCh38
NC_000002.11:g.234825856dup , CM000664.1:g.234825856dup
GRCh37
NC_000002.10:g.234490595dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'