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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:
CA727900826
Gene:
Linked Data
dbSNP Id:
rs1397588358
gnomAD v3:
17-30237185-AG-A
gnomAD v4:
17-30237185-AG-A
MyVariant Identifiers:
chr17:g.28564204del (hg19)
chr17:g.30237186del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237191del , CM000679.2:g.30237191del
GRCh38
NC_000017.10:g.28564209del , CM000679.1:g.28564209del
GRCh37
NC_000017.9:g.25588335del
NCBI36
NG_011747.2:g.3751del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+121del
XR_001752824.1:n.280+121del
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