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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:
CA1139230135
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11871499_11871507dup , CM000686.2:g.11871499_11871507dup
GRCh38
NC_000024.9:g.13992205_13992213dup , CM000686.1:g.13992205_13992213dup
GRCh37
NC_000024.8:g.12502205_12502213dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'