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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:
CA1080100917
Gene:
Linked Data
dbSNP Id:
rs1752231114
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111066123dup , CM000667.2:g.111066123dup
GRCh38
NC_000005.9:g.110401821dup , CM000667.1:g.110401821dup
GRCh37
NC_000005.8:g.110429720dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'