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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:
CA727900774
Gene:
Linked Data
dbSNP Id:
rs1488042543
gnomAD v3:
17-30237174-CT-C
gnomAD v4:
17-30237174-CT-C
MyVariant Identifiers:
chr17:g.28564193del (hg19)
chr17:g.30237175del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237175del , CM000679.2:g.30237175del
GRCh38
NC_000017.10:g.28564193del , CM000679.1:g.28564193del
GRCh37
NC_000017.9:g.25588319del
NCBI36
NG_011747.2:g.3762del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+105del
XR_001752824.1:n.280+105del
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