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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:
CA1318169513
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007174_195007175delinsAG , CM000664.2:g.195007174_195007175delinsAG
GRCh38
NC_000002.11:g.195871898_195871899delinsAG , CM000664.1:g.195871898_195871899delinsAG
GRCh37
NC_000002.10:g.195580143_195580144delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739836.1:n.553+52260_553+52261delinsCT
Search 100 bp 5'
Search 100 bp 3'