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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:
CA2786504780
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6072748_6072749dup , CM000672.2:g.6072748_6072749dup
GRCh38
NC_000010.10:g.6114711_6114712dup , CM000672.1:g.6114711_6114712dup
GRCh37
NC_000010.9:g.6154717_6154718dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'