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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:
CA2733483740
Gene:
Linked Data
dbSNP Id:
rs2143017427
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237319_30237346del , CM000679.2:g.30237319_30237346del
GRCh38
NC_000017.10:g.28564337_28564364del , CM000679.1:g.28564337_28564364del
GRCh37
NC_000017.9:g.25588463_25588490del
NCBI36
NG_011747.2:g.3592_3619del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+249_165+276del
XR_001752824.1:n.280+249_280+276del
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Search 100 bp 3'