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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:
CA1178532524
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.80012296_80012297delinsAT , CM000663.2:g.80012296_80012297delinsAT
GRCh38
NC_000001.10:g.80477981_80477982delinsAT , CM000663.1:g.80477981_80477982delinsAT
GRCh37
NC_000001.9:g.80250569_80250570delinsAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'