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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:
CA1149683788
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2567442_2567443delinsGA , CM000663.2:g.2567442_2567443delinsGA
GRCh38
NC_000001.10:g.2498881_2498882delinsGA , CM000663.1:g.2498881_2498882delinsGA
GRCh37
NC_000001.9:g.2475536_2475537delinsTC
NCBI36
NG_047096.1:g.16078_16079delinsGA
Transcript Alleles
HGVS
Amino-acid Change
NR_121638.1:n.71+837_71+838delinsGA
Search 100 bp 5'
Search 100 bp 3'