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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:
CA1524104187
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.4304956_4304957delinsGA , CM000667.2:g.4304956_4304957delinsGA
GRCh38
NC_000005.9:g.4305069_4305070delinsGA , CM000667.1:g.4305069_4305070delinsGA
GRCh37
NC_000005.8:g.4358069_4358070delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'