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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:
CA1215458599
Gene:
Linked Data
dbSNP Id:
rs1658108412
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.191590188dup , CM000663.2:g.191590188dup
GRCh38
NC_000001.10:g.191559318dup , CM000663.1:g.191559318dup
GRCh37
NC_000001.9:g.189825941dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'