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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:
CA1282459287
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118086844_118086845delinsCA , CM000664.2:g.118086844_118086845delinsCA
GRCh38
NC_000002.11:g.118844420_118844421delinsCA , CM000664.1:g.118844420_118844421delinsCA
GRCh37
NC_000002.10:g.118560890_118560891delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512305.1:c.696+1215_696+1216delinsTG
XP_011510607.1:n.696+1215_696+1216delinsTG
XR_001739662.2:n.138+1406_138+1407delinsTG
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