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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
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Canonical Allele Identifier:
CA1282459295
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118086871_118086875delinsTTCTC , CM000664.2:g.118086871_118086875delinsTTCTC
GRCh38
NC_000002.11:g.118844447_118844451delinsTTCTC , CM000664.1:g.118844447_118844451delinsTTCTC
GRCh37
NC_000002.10:g.118560917_118560921delinsTTCTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512305.1:c.696+1185_696+1189delinsGAGAA
XP_011510607.1:n.696+1185_696+1189delinsG...
XR_001739662.2:n.138+1376_138+1380delinsGAGAA
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