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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:
CA2571704652
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.2882995_2882996del , CM000670.2:g.2882995_2882996del
GRCh38
NC_000008.10:g.2740517_2740518del , CM000670.1:g.2740517_2740518del
GRCh37
NC_000008.9:g.2727924_2727925del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_941367.1:n.212-42770_212-42769del
NR_168441.1:n.1166+45231_1166+45232del
NR_168442.1:n.1331-33340_1331-33339del
NR_168443.1:n.1171+45231_1171+45232del
NR_168444.1:n.1166+45231_1166+45232del
NR_168445.1:n.1249+45148_1249+45149del
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