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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:
CA2777062301
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388363_97388364insAA , CM000669.2:g.97388363_97388364insAA
GRCh38
NC_000007.13:g.97017675_97017676insAA , CM000669.1:g.97017675_97017676insAA
GRCh37
NC_000007.12:g.96855611_96855612insAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59716_127-59715insTT
Search 100 bp 5'
Search 100 bp 3'