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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:
CA1668053383
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.140848719_140848720delinsTG , CM000668.2:g.140848719_140848720delinsTG
GRCh38
NC_000006.11:g.141169856_141169857delinsTG , CM000668.1:g.141169856_141169857delinsTG
GRCh37
NC_000006.10:g.141211549_141211550delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_428030.2:n.327-2416_327-2415delinsCA
XR_943075.1:n.315-2416_315-2415delinsCA
XR_943076.1:n.246-2416_246-2415delinsCA
XR_001744390.1:n.235-32490_235-32489delinsCA
XR_428030.4:n.341-2416_341-2415delinsCA
XR_943075.3:n.329-2416_329-2415delinsCA
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