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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:
CA2137107114
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.52417642_52417643delinsCT , CM000676.2:g.52417642_52417643delinsCT
GRCh38
NC_000014.8:g.52884360_52884361delinsCT , CM000676.1:g.52884360_52884361delinsCT
GRCh37
NC_000014.7:g.51954110_51954111delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943866.1:n.3060_3061delinsAG
Search 100 bp 5'
Search 100 bp 3'