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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:
CA1233157300
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.632996_632997delinsAC , CM000664.2:g.632996_632997delinsAC
GRCh38
NC_000002.11:g.632996_632997delinsAC , CM000664.1:g.632996_632997delinsAC
GRCh37
NC_000002.10:g.622996_622997delinsAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'