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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:
CA2748055025
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228862040_228862041insA , CM000663.2:g.228862040_228862041insA
GRCh38
NC_000001.10:g.228997787_228997788insA , CM000663.1:g.228997787_228997788insA
GRCh37
NC_000001.9:g.227064410_227064411insA
NCBI36
Search 100 bp 5'
Search 100 bp 3'